www.nu.edu.

af

www.ecampus-afghanistan.org

Eroes
.

. .

textbooks@afghanic.org :

- - - -
 .

.
 !

: ( )

"

."

.
.

.
.
 .
.
.

www.ecampus-afghanistan.org

.
.

.
.

.
Center for International ) CIM (GIZ)
(Migration and Development

:
textbooks@afghanic.org :
wardak@afghanic.org
)
(
 (% )

(% )

( )
 .

( )
( )

( )
.

. .
.

.
.

( )
( )
 ( )

-----------------------------------------------------------------------------
--------------------------------------------------------------------------------------
-------------------------------------- -------------------------
--------------------------------- (Human Genome)
--------------------------------------------------------------- (Cell Division)
----------------------------------------------------------- -------------- (Mitosis)
------------------------------------------------------------------------- (Meiosis)
-----------------------------------------------------
----------------------------------------------------------------
----------------------------------------------------------------------- (Mutation)
----------- -----------------------------------------------------------
------------------------------------------------------------
---------------------------------------------------------
--------------------------- -------------------------------
------------------------------------------------------------------ (Mosaicism)
------------------------------------------------- (Uniparentaldisomy)
------------------------------------------ -------------------- Contigous gene syndrome
----------------------------------------------------------------
--------------------------------------------------------
----------------------------------------------------------------- -----------
------------------ ------------- (Genetic Engineering) Recombinant DNA Technology
------------------
----------------------
-----------------------
---- ------------------------------------------------------------- Gene Therapy
--------------------------------------------------------------------------
--------------------------------------------------------------------------------
------------------------ ------------------------------------------
----------------------------------------------------------------
----------------------- -------- (x-Linked inheritance)
--------------------------------------- ---------------------------------
-----------------------------------------------------------------------
---------------------------------------- (Multifactorial inheritance)
-------------------------------------------------------- ----- Non mendelian inheritance
--------------------------------------------- (Genomic imprinting)
--------------------------------------------------- (Genetic inisiption)
-------------------------------------------------------------------
------------------------------- -------------------------------
------- --------------------------------------------------
---------------------------------------------------------------------------
---------------------------------------------------------------------
----------------------------- --------------------------------------- Epigenetic resolution
-------------------------------------------------------------------------
-----------------------------------------------------------------------
----------------------------------- ---------- --------- (Prenatal diagnosis)
-----------------------------------------------------------------------
-----------------------------------------------------
---------------------------------------------------------------------- ------------
-----------------------------------------------------------------------------
-- ------------------------------------------------------------- Imaging
------------------------------------------------------------------------ Prenatal
-------------------------------------- ------------------ (Genetic counseling)
------------------ ----------------------------------- ------ Down syndrome (Trisomy21)
------------------------------------------------------------------ Trisomy 18 syndrome
------------------------------------------------------------------- Trisomy 13 syndrome
----------------------------------- --------------------------------- Aneuplidia
------------------------------------------------------------------------
----------------------------------------------------------------------- Turner syndrome
-------------------------------------------------- -------------- Klinofelter syndrome
------------------------------------------------------------------------- Xyy syndrome
-------------------------------------------------------------------------- Xxx syndrome
 --------------------------------------------------------------- --- Trisomy 8 syndrome
--------------------------------------------------------------------- Cat Eye syndrome
-------------------------------------------------------
---------------------------------------------------------- Wolf Hirseh horn syndrome
-------------------------------------------------------------------- Cidu chat syndrome
------------------------------------------------------------------- William syndrome
------------------------------------------------------------- Langer Giedian syndrome
------------------------------------------------------------------- WAGER association
------------- -------------------------------------------------- Miller dieker syndrome
-------------------------------------------------------------------- Smith magenissyn
------------------------------------------------------------------- Del 22 Q syndrome
------------------------ --------------------------------------
-------------------------------------------------------------------- Marfan syndrome
----------------------------------------------------------------------- Achondroplasia
----------------------------------- ------------------------ Craniosynostosissyndrome
------------------------------------------------------------ Treacher Collin syndrome
------------------------------------------------------------------------- Cystic fibrosis
----------------------------------------------------- ------- Smithlemliopitz syndrome
-------------------------------------------------------------- Sensoneural hearing loss
------------------------------------------------------------ Spinal muscular dystrophy
--------------------------------------------------------------------
-----------------------------------------------------
-----------------------------------------------------------------------
----------------------------------------------------------------------------
-------------------------------------------- ------------------------- ( Albinism )
------------------------ --------------------------------------------------- Alcaptonuria
------------------------------------------------------------------------- Honocystinuria
------------------------------------------------------------------------------- Cysinuria
------------------------------------------ ----------------------------- Hartnupdisease
---------------------------------------------------- (MMA) Methyl malonicacademia
------------------------------------------------------------- Maple syrup Urindisease
----------------------------------------------------- -------------
--------------------------------------------------------------------------- Galactosemia
-------------------------------------------------------------
--------------------------------------------------------------
------------------------------------------------------------------------ Caucher disease
------------------------------------------------------- Metachromatic leukodystrophy
------------------------------------------------------------------- G.M.I gangliosidosis
-------------------------------------------------------------------- GM2 gangliosidosis
---------- ------------------------------------------------------------- Taysachdisease
-------------------------------------------------------------------- Sand hoff disease
---------------------------------------------------------------- Niemann Pick disease
-------------------------- ----------------------------------
----------------------------------------------------------------- Peroxisomal
---------------------------------------------------------- AIFa. I antitrypsin deficiency
----------------------------------------- ------------------------------ Wilson disease
-------------------------------------------------- Duchene type muscular dustrophy
--------------------------------------------------------------------------------
----------------------------------------------------- ----------------- Apertsyndrome
--------------------------------------------------------------- Adrenoleukodystrophy
--------------------------------------------------------- Brckeithwiedeman syndrome
-------------------------------------------------------------- ---- Praderwilli syndrome
------------------------------------------------------------------ Angelman syndrome
--------------------------------------------------------------------------------- UPD -7
------------------------------------------------------------------- Myotonic dystrophy
------------------------------------------------------------------- Fried reaches ataxia
--- ----------------------------------------------------------------- Fragile x syndrome
--------------------------------------------------------------------------------- MELAS
---------------------------------------------------------------------------------- MERF
--------------- ----------------------- LEIGH subacut necrotizing encephalomyopathy
------------------------------------------------------------------ Cleft lip & Cleft plat
------------------------------------------------------------ (NTD ) Neural tube defect
----------------------------------- ---------------------------- Arthogryposis multiplex
----------------------------------------------------------- Cornelia de langesyndrome
------------------------------------------------------------------ Goldenhar syndrome
--------------------------------------------- ----------------------- Noonan syndrome
----------------------------------------------------------------------- Potter sequence
-------------------------------------------------------------- Opirz G/BBB syndrome
------------------------------------------------------- -------- Overgrowth syndrome
----------------------------------------------------------- Rubinstein taybesyndrome
--------------------------------------------------------------- Syndromicshort stature
----------------------------------------------------------------- VACTERC association
------------------------------------------------------------------------------ Teratogen
------------------- ( )
------------------------------------------------------------ Retinoic acid embryopathy
------------------------------------------------------------ Maternal substances abuse
------- -------------------------------------------------------------------
-------------------------
------------------------------------------------------------------------------
---------- --------------------- ------------------------------------------------------
-------- ------------------------------------------------------------------------
-------------------------------------------------------------------------------
 :

Gennon
.( ) Bateson

Genetic
.

Recombinant DNA Technology

.

. Mapping -

-
(Prenatal diagnosis)
(Presymptomatic diagnosis)
Carrier detection
.

. -

1
 . : -

. -

Gene Therapy -

(% )
(inborn error of ( major malformation )
. . .metabolism)
(Cosmetic)

( Expiedent)
.( )

:
.
(% ) .

2
 ( )
( )

% .
.

( ) still birth

: (Human Genome)

spiral , (twisted ) -
( )

( histone ( D N A ) deoxyribonucleic acid

DNA . )

(Somatic cells)

DNA
(Base pair)

Non Coding % (DNA) Sequence

Junk DNA
3
 . Code

Guanin Adenine , Thymin , Cytosin DNA

. Aspartic acid GAC AUG:

DNA

. (mutation)

: -
DNA : -

4
 : -

( ) DNA . %
Junk DNA Junk DNA

. repetitive sequence

( )

m RNA (messenger ribo mucleic acid) m RNA DNA

m RNA .
.( ) .

5
 .

x
Y X
( Haploid cell )
diploid )
( ) ( cells

. Code Gene
.

.( ) Locus

( region) ( the law of linear order)

Introne Exone

) ( ) ( code ) Exone
( Transcription) m RAN DNA ( introne
Tarnslation m RAN
( DAN) (DAN) RAN
Deoxunbrse RAN
RAN Transter RAN , m RAN RAN Ribrse
, RAN, Libosomy

:(cell division )

6
 .

.( )

.( ).

:(Mitosis)

DNA
( Daughter cell )

(Phase) .
.

. ( Condensed )

arm
sister chromatid .
.

.( )

:(Meiosis)

. ( )

7
 ( ) .

.
.
.
: .

.( ) .

.( ) Cross over phenomenon

: - : -

8
 :

.
.

chorionic villi prenatal

( Amniocyte) ()

invasive (trisomy13)
FISH
arm )
(

G . R Q. G Banding
. banding

High resolution chromosume

analysis
.

: (Flurescent insitu hybridazation) FISH

. sequence ( ) DNA probe

9
 .

sequence. Specific probe, point brobe probes

. .
M - FIHS Multi color FISH
.

FISH

FISH ..
( )

.( )

FISH

DNA
.( )

( )

10
 hybridized FISH : -
(wolf Hirsch horn syndrome ) 4p

. .
.
.
. .
.
.
. .
.
. still birth
. Ambigous genetalia .
( ) .
Leukemic .
Solid tumors. .
:

. centromer

11
 q P
.
. (differentiation)
Meta q P
q p Centric
acro centric P submeta centric
. ( ).

. Tele centric
.( )

(Deletion) Del

(Duplication) Dup

(Iso chromosome) I

(Paternal Origin) Pat

(Maternal origin) Mat

( ring chromosome) r

(Mutation)
:
RNA DNA
DNA
Mutant
( Phenotype)

12
 Drosophila
%
%
DNA

Replication DN A

DNA

RNA Tautomerism

Guanine Adenine Depurination

Deamination
Ketone Amine

= Replintion
Trans fation synthesis

13
 DNA DNA

DNA : induce mutation

Alky ( NH2 OH)HY droxy lmin
Ochro toxin Nitrous acid lating agent

Deletion
insertion

Missen mutation 3

DNA Silent mutation

Stop codan Nonsense mutation

14
 Truncatedpntein

DNA Frame shift mutation

Frame shiyt mutation
m RAN Exone introne

Tumur suppessor

%
pholymorphism

perion Acquired mutation

perion pntein . perion mutation

. sporadic
(% . )
(Blanced Translocation
) Carrier)

. (

15
 :

(n)

. ( n)

Euploid
Polypoid . ( n ) ( n) ( n) .

. ( n)

Poly poid conception Musaic

.

(n)
aneupliod
.

Down syndrome Trisomy12

.

. anaphase lag non disjunction .

. Musaic .

.( ) .

16
 :

: -

_ +

x +
_ +

. 44xx q -

. Deletion q

17
 :(De) Deletion

Del
. Del

46xx.del. (1)p (36.3)

1P36.3 deletion . (P arm)
. . syndrome

Cridu chat Del (4P) .Wolf Hirsch horn syndrome

. del (5p) syndrome

:Dup (Duplication)

. Inverted Tandem

Tandem
Dup inverted
.cat Eye syndrome 22q
. ( Coloboma )

.(Inv) Inversion

Pericenteric Paracenteric

18
 .
. Pericenteric

( r) ring chromosome
Telomer
. ring
.
(Trans) translocation

. .
.Blanced trans location .
.unblanced trans location .
Blanced translocation.

.
unblanced translocation
.

blanced translocation
unbalanced trans location
.
.

.Robertsonian .translocation Reciprocal translocation

Reciprocal translocation
acrocentric Reciprocal translocation
.

19
 (ins) insertion

insertion

. insertion

Mosaicism aneuploidy
47x.yy, (klinefelter (turner syndrome) 45x .
. Mosaic .syndrome) 47.xxx, 47 xxy

:Mosaicism

. .
46xx/47xx+
x 45x,/46xx/47xxx
x

.( )

.( ) chorionic villi
.

Disomic
.

Germline Mosaicism
20
 ( )
.( )

rearrangement

. ( ).

:Uniparental disomy

( )
.( )

( )
UPD
.

21
 Uniparental disomy : -

UPD
Heterodisomy

Coplementation Dulication , Rescue

. isodisomy

22
 .( ) Isodisomy:
. UPD
. imprinting .
. .
. vestigial aneuploidy .
UPD
Carrier
UPD UPD
.

( - ) .
.
. UPD

UPD UPD

.( )

DNA

) DNA DNA
. (

Beckwith wiedeman angelman syndrome, prader willi syndrome

. UPD

maternal Carrier
. isodisomy

23
 ( ) prenatal Fetter UPD

.( ) imprinting ,Recessive

:Contigous gene syndromes

.
Contigous gene
Karyotype
Microdeletion syndrome

.
. Contigous gene syndromes
DNA FISH
sporadic
( )
.
Del 15q11 Prader willi / angelman syndrome
Del 22q11 Shprintzen / digeorge syndrome
Del 8q24 Langer Giedian syndrome
Del17P13 Miller dieker syndrome
Del 13qp14 Retino blastoma, mental retardation
11p15 lDe Beckwith wedemann syndrome
De 11p13l Wilm tumur, aniridia, genito urinary
Malformation and mental retardation
5p Cridu chat syndrome
17p11 Smith magenis syndrome
7 q11 Willum syndroem

24
 .2 p12 Allagile syndrome

:( Chromosome fragility ) ,

. ( )

DNA
Aberration
Chromosomal breakage instability syndrome
Bloom syndrome

.( ... Telangectasis

Bloom syndrom
Telangectasis (Butter fly) (Forarme)
Bollus eruption
.

IgG IgM IgA . ( Clubfoot clinodactyly, polydactyly )

. ( ).

DNA Helicase :Bloom syndrome

. .

:fanconi Anemia .
. ancytopenia
-: (lous bar syndrom), Ataxia telangectasis .
DNA Ataxia (Immune deffiency) telangectasis
.

25
Centromeric Immune Diffiency, Focal anomaly .I.C F. syndrome .
.( ) .instabilty
:Robert Syndrome .
.( ) Craniofacial
:xero dermenta pigmentosa .
.( ) lesion
.( ) Wer ner syndrome .
scleroderma Allopecia

Macular Retinitis pigmentosa Catract

.( ) degeneration, Glaucoma

. ( ) solid tumure

( primary)
( secondary )
. Retinoblastoma 13q

. (+cq,22}{q34 q11})

.
.
.

26
 :

.
( ) sequences
. ( ) isolation
.

Recombinant DNA technology:

Rectriction endonoclase

DNA DNA . sequences DNA

DNA ( ) Variation
(recognition
( ) .site)
. restriction mape restrictions site
. DNA sequences

DNA restriction enzyme

. DNA
( (inter feron , growth hormone )
probe .
. Mapping DNA lable

. (DNA)
Northern Southern blot analysis
. RNA blot analysis

restriction endonuclase southern blot

27
 agarose gel electro phoresis .

(probes)
.

(primers) DNA polymerase chain reaction

sequences DNA
. DNA

Heterogenecity
.

. DNA

Restriction analysis

Single confrrmational polymorphsim analysis

Direct sequencing with assistance of PCR

Heteroduplex assay

Protein truncation assay

expansion trinucleotide repeat (point mutations)

. Genetic anticipation

28
 . DNA

25- .hydroxylase .
.
.Duchene muscular dystrophy .
.B A .
( .lesh nyhan syndrome) .
FGFR related craniosynostosis. .
. .
. .
sequence
. linkage analysis

linkage analysis

Neurofibromatosis .
. Direct and indirect assay

(Sibling)
(Trait)
(obesity )
.

.
. prenatal (Carrier)

29
inborn error of Huntington diseases
inaccessible metaolism

.
parental
. DNA

Germline thrapy
somatic thrapy .
. recipent

Adenosin deaminase
.
) Gaucher, Recombinant enzyme replacement:
(
. .

Gene Therapy
Expression

.
:
30
 .
-: Exvivo -
.
-: Invivo -
.

:
Germ line Therapy - Somatic Cell Therapy -
: -: -

.
- : Germ line Therapy -
.
-:
Gene transfer
Transfection Transduced
. infection

DNA Transfection
infection .
Parenteral Retro Virus
. injection , Gene Gun , Aerosol
Liposome , Calcium Phosphate ,
Neo Organ Implantation Transplantation
.

31
 :

:(Mendelian disorder)

Gregor mendal
Thomas Hant morgan .

(Phenotype)

(single gene (Germ line ) DNA ( trait )

( ) . inheritance) Mendelian inheritance
Single gene inhertance

Gregor Mendel
.( )

segregation, trait .
. independence

. .
. ( Allele )

Independence
Victor mckusisc Cotalog Mendeline inheritance in man .
32
 ( ) .
y. link
.( )

.( )

33
 :

(locus) :

.( )

.( ) ( codes)

.
.
.( )

:
. ( ).

.( )

:(:Recessive) ( Dominant)

Dominant gene
. recessive

( )
.( )

34
 .( ) : (genotype)

(phenotype) :

.( )
)
.( - ) (

Pliotropy

fibrilline genes . Marfan

.( )

Penetrance
%( - ) ( - )
Complete Penetrance
reduced Penetrance
.

:Expressivity
Expressivity
Expressivity . Expressivity
anticipation epistasis
. (sochestic factors )

Locus gene Expressivity

. .( )

35
 . (tradition)
. (mental retardation) ( )

:allelic Hetrogenity locus hetrogenity

(locus) :
. ( )
(MPs. II, A.B.C sunifilipo syndrome
. , D)

F 508 mutations :
.a R 11V H mutation

:( ) Phenotypic hetrogenity

collagen II gene

kniest dysplasia, hypochondrogenesis

stickler Spondylo epiphyseal dysplasia congenita

Fibroblast growth. .

cranio synostosis (FG FR II ) Factor receptor II

pfiffer Jackson weiss syndrome , Crouzon syndrome
apert syndrome syndrome

36
 . single gene

:( ) :heredity Pattern

.( )

( )
osteogenesis polydactyly
.( ) imperfecta

.( ) expressivity .

.( )

non penetrance .
. ( ).
.
(Baldness)
. sex limited trait
vertical fashion .
.( )
vertical fashion
.( )

37
 : -

.
( )
. Achondroplasia

.
.

none paternity :

. penetrance :

.( germ cell line ) germ line mosaicism :

. (recurrence)

38
 osteogenesis imperfecta type II

recessive
. (% )

:
.( )

. .
. Marfan
.

Penetrance
( myotonic .
) %( ) dystrophy )
huntington (
%( )
(regid juvinil Huntington )
Expansian of triplet repeat
. imprinting ( )

. (% )

. ( ). :

39
 ( ) ( ) :

insemination :
Egg donation artificial
.

Marfan syndrome, Achondroplasia, Neurofibromatosis

( - ) Crouzon disease , Hereditary spherocytosis

:Autosomal recessive inheritance

( )

)
( ) ( carrier
.( )

Herdy winberg
(Carrier)
.

.P2+ 2 pq + q2 =1

q P
.

. : (p2) cystic fibrosis

. (2 pq)

40
 (P2) 1:2500

P=1/50

q=49/50

2(pq)=2x1/50x49/59=1/25 %3.92

( adult )

.( )

. ( ) .
Sickle cell
.
.( ). .
. .( ) .
( )
.( )

41
 -: : -

.
. . (consunguinity)
.( ) .

( ) .
systic Fibrosis
.( ).
.
phenylketonuria .Beta-thalasiemia
.( ) Glactosemia

.
.( ) disease tay sachs Hemoglobinopathy : .

42
 % .
.( ). Carrier %

.
( )
Uniparental disomy
.

UPD
predisposing UPD .
.
( ).

prenatal .
. insemination
.

Galactosemia, phenyl ketonuria, B. thalasiemia

Retinitis pigmentosia , Marquio diseases, Alkaptonuria

Taysach diseases, Cystic Fibrosis, Laurence Moon biedle syndrome

( ) Fanconi anemai, Gaucher diseases, Canavan diseases

:(x linked inheritace )

x. linked x
.( ) inheritance

X
x
Hemizyguos x
43
 .

x lyon

( )
.

.( ) .

X, linked recessive inheritance:

(500)
.( )

.
. )

Diagonal .
( ) .
. (% )

(Carrier) .
Y
x. linked
y x . UPD

44
 .

. mutation rate .

Lyon :( :lyonization ) : .
.
45-x-karyotype :

. :

:
.

UPD.

. : Non random in activation :

: : . -
45
 : x. Linked recessive

Duchen Glucose-6- phasphate dehydrogenase difficiency Haemophilia

Color (Hunter syndrome) Mucopoly succharidosis type II Muscular dystrophy
.( - )Ichthyosis. Occular Albinisim Nephrogenic diabetis insipidus blindness

(x. Linked dominant inheritance)

x. Linked dominant

.
.

:. : . -

. (% ) .

46
 .
.
.
.
incontinentia .

. Pigmentosa

. Miscarriage

( )

. 47xxy
.
Fragile , x, orofacial digital syndrome VitD resistance rickets, Hypopasphatenia
.( ) .syndrome, incontinentia pigmenti,
.(y. linked inheritance) y
y

Y : -

MC. ( Holandric ) y linked

Kusick Catalog
47
 .( )

.( )

Frontal baldness, webbed toes, hairy pinna, porcupin skin.

:Multifactorial inheritance

Maltifactorial
%( - ) Recurrennce risk : .
.( )

.
:

,Hirschspring disease, Cleft plate., Cleft lip, Neural tube defect

diabetis mellitus ,Congenital Hypertrophic pyloric stenosis

.( ) ..

(% )
congenital dislocation of
.( ) Breech ( ) Hip

48
First .
) risk degree relative
( (% )
( )

(reurrence risk) .
( Neural tube defect )
( - )
. ( - ) NTD
single gene

( ).

. .
agangionic Hirschsprunge
.( )

.( )

.( )
. :

( ) %( )

% . (% )
.( ) .

49
 .
.
: :( _ )

. :
.% . -
.% -
.% -

. . :
.
. NTD
.( )
Recurrence risk
.%
%

(cleft lip) (Cleft plate)

. . :
.% -
.% -
%
.% -
:
.%
% -
% -
.% -

50
 . :
% -
%

: : Club fort

.% . -
:
(Female> Male )
.% -

:(pyloric stenosis)
. . : . :
Male index parent
.% /
.%. /
.% /
.% /

. Female index parent

% /
.% /
.% /
.% /

:Non mendelian inheritance

( )
.
( ) .Genomic imprinting

angelman syndrome . Prader willi syndrome

51
) .
prader willi syndrome . (.
.angelman syndrome
.( ) Del
Imprinting
.( )

( ) Imprinting
. ( ) ( )

.
UPD UPD Imprinting
(

.
Beckwith wiedeman syndrome
. imprinting 11 p 15

( :Genetic anticiption )

.
. Mapping

DNA triplet Expansion

. Expansion
(CAG. CGG ) DNA
52
 .
. Triplet repeat:
.
DNA
DNA .

DNA Polymerase (complex ) (hairpin loop)

.
Triplet repeat DNA
.
Triplet repeat: Expansion
.
Myotonic dystrophy, Huntington disease. Spino cerebeller atrophy
Friedreich's :
.fragile x. syndrome . ataxia
.

:(Mitochondrial- inheritance) :

leigh disease .
regression )
(MELAS) Stroke like (Dyskinesia
.( ) syndrome
53
 DNA .
. ATP
.
. .
. .
. .
(Mt DNA )
. DNA
ATP .
. CNS
DNA .

.
. Duplication Deletion DNA
.

54
 : . -

:( family history & pedigree)

(three generation pedigree) .

. proband
(first degree
.relative)
( ) (Second degree relative
.(
. ( ).

.
.
. .
. .
. .
.
.
55
 . proband .
( ) (Consangunity) .
(. ) .
.
x linked . ( Maiden name) .
.
. .
. still birth .

.
.
.

: . -

56
 :

. :

.( ) (range)

.( )

(anencephaly) .
.(hyder ancephaly) .
.(Holoprosencephlay) .
(Trisomy18, trisomy 13) . .
Tripoloidy .
renal agenesis .
sirinomelia .
.Short limb dwarfism .

57
 . .
Pterygium syndrome :
.meckle graber syndrome :
New laxova. Syndrome :

.( ).

.Marfan syndrome Retinal detachment stickler syndrome

58
 .
.( )
.
. .( ) % % -

.
(% ) - (% )
.( )

:
:Developmental genetic

. %
mutation (% )
.( ) single gene

.( ) .

:.(Monogenic)
%. .
.
(x linked hydrocephalus) (x)
.(achondroplasia)
.Apert disease

.Treacher Collin syndrome

59
 :
. (% )
. :
Xxy_ Xo
% prader willi syndrome 22q,18q ,13q, 7q, 5p, 4p :
.( ) Deletion

:
. (% )
-
Varicella toxoplasmosis Rubella, .Cytomegalo virus, Herpes simplex
.zoster

:
(% . )
(Diabets mellitus)
.(phenyl ketonuria)
.(hyperthermia)

.( )
Congenital hip . Clubfoot ,oligohydro amnios :

. .Torticollis ,.dislocation
.Gastrochisis porencephally - :Disruption
.

. Cojoined twins :

:
( ) , Herbicide, poly chlorinated biphenyl.
60
Law Neonatal PCB syndrome
.( ) birth wleaht, hyperpigmentation

:
Warfarin , phentoin, Di-ethyl ,still besterol, thalodomide
Valproic acid D-penicillamin (Vit- A) isotretion Cytotoxic

-:

(.poly genic )
.

:(anomalids)
.VALTER syndrome, CHARGE syndrome, prune belly syndrome, pier robin syndrome

.( ) .neural tube defect :

_
.(Apoptosis) (prolifration)
.Apoptosis .Embryogenesis

.(drosophila) fruit fly

.
Drosophila Pax
.
pax -

Aniridia
.( ) . (Chamber)

61
 :(Cellular interaction)

. expression
Encode Transcription expression
undiffrentiated .
.

Developmental field .
Migration, prolifration ( )

(receptors) code
.
) receptors growth factor
Matrix ( adhesion

migration primed cells

expressed growth factors

Carceno genic
.

62
 :Epigenetic regulation

.
Epigenetic
.
Epigenetic DNA imprinting

. ( Methylated )
.(imprinting ) methylate
( ) expresion Imprinting
. Imprinting
Imprinting
.

(Enviromental factors)

%- ) / . cl ( .

. (% )
% -
(Frgile x syndrome , ) (dysability)
meningitis perinatal anoxia Down syndrome
.( )
.( )

63
 :

dysfunction Miscarrage

Cognitive dysfunction

.dysfunction

.placental dependent pathway .

.placental independent pathways .

. .

. .polychlorinated biphenyle

electromagnetic ( )
.

(Radone)

64
 .

( - )
.
. . sv
0.19 sv 0.10sv)

. .( - )

. (neural tube defect)

(low ( )
.( ) birth weight)

( ) Xenobiotic

(receptors)

xenobiotic (efector systems)

.

65
 .

.
(Toxicity )
.

Folic acid
Corticosteroid . (spina bifida )
surfactant
.( )

(growth)

(disruption )
(.Major malfarmation )
.( ) Distortion
. .amniotic band sequence

( )

(club foot)

66
 .
crowding
.

.
.

.
( )

: (prenatal Dignosis)

. ( )

:(clinical dysmorphology)

.( )

implifecation
.

.miner defect Major defect

67
 (% - )

.(Nipple) .
. creases .Miner variant .
(% )

. polydactyly

malformation - : (primary defect)

neural tube defect

multifactorial
. % - recurrent risk

diruption : (secondry defect)

Rubella Cataract
68
 occlusion
.

: (Deformation)

.Constriction.

Talipes

: (Dysplasia) .

organization

Lissencephaly

Single Gene Defect . Achondroplsia

.

.
( ) .

_ :(Sequence )
.potter sequence
. Talipes Squashed Face

Oligohydro amnios
( ). Ureter obstruction Renal Agenesis

:( Association )
Verteberal, anal VATER Association
. Renal/Radial Tracheoesophageal

69
 .

insult :( Field defect )

.

. polytopic . .Monotopic .

Craniosynostosis ( Sutures )
.

. Pfeiffer syndrome apert syndrome

( :Syndrome )
.Meckle syndrome
17q Polycystic kidney, Polydactyly Encephalocele
.

Consistency .
( ).

70
 -:

. .

. .

: .

.
.

( ) Goitrogenic
.( ).

valproate warfarine ( Hyperthermia )

.

Fetal aKinesia
.( ) .....

. ( )
.

71
 .
Neuromusucular .
Constrain . Constrain . Dysfunction
.( ) .. .

Hypotonia Arthrogryposis
.

Congenital Congenital dystrophy Prader willi Syndrome

. Myopathy

Bicarnate

. Ehler Danlos syndrome

( ) .
VATER association
. Sirenomellia

. Papyraceus
.( ) ... aplasia cutis

(Size)

high output ,Diabetis

.( ) renal failure

. Poly hydroamnious

72
 (% ) Esophageal atresia (% )
.
.( ) ... ( )

Size
. oligo hydroamniose
oligo hydroamniose
.( ) .
. potter face Bilateral renal agenesis
.( )
Full term .
. Breech presentation
.( ) ..

Alcohol withdrawal syndrome withdrawal Syndrome

Silver Russel syndrome Beckwith wideman syndrome ( NGT )

.
. di-george syudrome
( ). wideman syndrome

.( ) Apert syndrome
.
. situs inversus ASD. VSD

73
 Achondroplasia ( )
.( )
.
(Edward syndrome) . Patus syndrome

( Down Syndrome)
.
. Sex. Link, recesive ectodermal dysplasia

Lowe
( ). lens opacities syndrome
. ( )

Fragile x- syndrome Echolalia

( Skills) William syndrome

Cocktail party manner

angelman syndrome .
Rett
. syndrome
.
Smith magenes

( ).

:( )

74
 .( ) .

75
 Preterm Term

( - ) ( - )

- - .

. - . (L_W /2) .

. - . . - . pupil .

. - . . - . .fissure .

. - . . - . inner canthus .

. - . . - . outer canthus .

. - . . - . philtrum .

. - . . - .

- - .

. - - . * .

- - ( ) .

. .
. .
. - . . - . ( ) .

. . . - . ..

. - . . - . Glans ) penis .

. % .*

: -

76
 .
Symphisis pubis ( )

.
. / : :
. / :
. :
Span
Marfinoid Span
.
.
. Liupo dystrophy
.

( ) .Cohens syndrome Beckwith wiedeman syndrome Marfan syndrome :(Skull)

Kline felter syndrome

Laurance. Moon biedle syndrome lippel trenauny weber syndrome Beal syndrome

Prader willi syndrome Neurofibromatosis 1 Kline felter syndrome

Saggital sutur
Synostosis

. Doligo cephaly Scaphocephaly

Coronal Suture
. Brachycephaly
Coronal suture (Parallegram)

77
. Plagiocephlay
( Metopic suture)
. Trigocephaly
( )
.( ) .... Turriceplay
.( ) Scaphoicephaly

:(Face)

Down syndrome

.
.
Down Round face .
cridu chat syndrome syndrome

Strickler Chandroplasia panctata

. syndrome
. congenital myopathy Fragile. X. Syndrome (Elongated face)
. potter sequence , squashed face
Silver russel syndrome
.

:(Forehead)

Craniosynotosis (Boosed forehead)

Hunter Hurler syndrome Storage disease Crouzon syndrome

78
 .syndrome

Sclerosing dysplsia Supra orbital ridge

. Fronto metaphyseal dysplasia

. Prader willi syndrome

. Lissencephllay (furrowing)

:(Eylids & palpebral fissur) .

Fronto nassal dysplasia

Holoproseencephaly Hypotelorism

Canthus
. Wardenberg syndrome

Micro cephaly . .forebrain

Rubinstin syndrome Maxillary Hypoplasia
. Treacher collin taybe

kabuki make Fetal alcohol syndrome

. .up syndrome

. Blepharophimosis
Mardin walker syndrome

79
 (.Syndrome , Epicanthus inversus, ,Ptosis.Blepharophimosis )BPES

. Smith lemli opits syndrome Noonan syndrome Ptosis

. .Treacherr collin syndrome Coloboma

. Cornella de lange syndrome (Synorphy)

. Megalocornea

CHARGE association Microphthalmea Microcornea

Ptosis Gongenital rubella infection

.Trisomy 13

Primary ocular Hurler syndrome

. Rieger syndrome Petters anomaly Malformation

. Osteogenesis imperfecta
. Telangectasis, ataxia Telangectasis

Goldenhar syndrome Epibulber dermoid

.

(Dot) :(Iris)
Down syndrome Brushfield spot
Lish Nodules .

80
 . Neurfibromatosis type I

wnarden burge hetro choromastia

Pupill Iris . syndrome
. William Iris Satellete

CHARGE association Iris

.

.trisomy 13 triploidy ( p-) Wolf. Hirshhorn syndrome

WAGR Association .(an iridia ) Iris

. (pink reflex) Ophthalmoscop

. Opacification

. Cataract

. (Dislocation) Subluxation

Sulfate Weill-marchesune syndrome Marfan syndrome, Hormocystin urea

. oxidase

. Retina young children

Retinitis pigmentosa older children Pigmentary retinophaty

81
 Catarat
retetinopathy

Abetalipoprotenemia Chondroplasia punctata

Cohen syndrome Cockyne syndrome

Cockyne syndrome Congenital rubella

( ).

pinna Canthus
low set .
. ears

. Low set ears

Beckwith wiedemannn (Creases) ear lob

.( ) .

.( )

( ) Beal syndrome

CHARGE association
( cysts ) Diastropic dysphalsia

Golden har syndrome

. (Promenent crus) Saethre. chotzen syndrome

Townes brockes syndrome

82
 .Treacher collin syndrome

(Storage Skeletal dysplasia Flat nasal brigde

Warfarin disorders )
Cornelia de lange Down syndrome
syndrome
. smith lemli opitz syndrome (anteverted)

Tricho rhino Seckle syndrome, Robenstein taybi syndrome

. phalangeal

. Robenstein taybi syndrome

seckle
.

. (Bulbous) Tricho rhino phalangeal

Di-Gerge/ schprintzen (Notching) Alae

. Premaxillary agenesis
Bifid frontgonsal dysplasia
( ). Nostril

William Syndrome
.
. Philtrum

. Vermelion border Cornella de lange syndrome

83
 Cleft lip

Popliteal web Pits Pits

Vander woude
. Non syndromic

. Treacher collin syndorme Trisomy13 (Microstomia )

. Beckwith wiedeman syndrome (Macrostomia)

Maxilla Golden har syndrome

. (Fusion) Mandibula

(Storage Backwith wiedenam (Macroglossia)

. disorder)

U Micronathia Pierre robin sequence

Mandible
. stickler syndrome

Distal Hypoglossia Hypodactyly

( )

Fernulum Lobulation
. (OFDS) orofacial digital syndrome

.( ) Di george / shprintzen syndrome

EEC syndrome.
Meckle syndrome
84
 Orofacial digital syndrome.
Popliteal web syndrome
Robert syndrome
Trisomy13
Vander woude syndrome (+lips pit)
Wolf hirshhorn syndrome (4p)

feil squence Klippel Turner syndrome, noonan syndrome Webbing

Drainage Turner syndrome

. Webbing

85
 Broncho oto renal syndrome Branehial cleft Branchial fistula
. Renal dysplasia Periauncalar pits

:(Chest)

Geune thoracic
Pectoralis major Poland yndrome Spondylo casto dysustosis dystropy
syndactyly Ipsilateral
Pectus excalltun
. Marfon syndrome Homocystime

Pectus carinatum
( ) . Marqulo syndrome (kyphosis)
. Turner syndrome

Diverication ( )
.

. Omphalocele Examphalus

. Tisomy18 :Bekwith wiedeman syndrome

. .(% )

Noonan syndrome? Hepato spleenomegaly

. Hepoto spleenomegaly (% )

86
 :

smith Hyppspadiasis
WAGER lemal opitz

Association
.

. Cryptorchidisim Micropenis

Smith .Down droth syndrome Componelic dysplasia

(Scrotum) lemal opetz
aurs kog syndrome (Shaft) penis
Bradydactyly, hyperteloresim
.

Mc Kusick kaufman syndrome Hydrometocolpos

. Pulydatyly

. Hypgenitalisim

Robinow syndrome CHARE association

Septo optic dysplasia Meckel syndrome
Smith leml. Opitz syndrome Nooman syndrome
Triploidy Prader willi syndrome
Trisomty13

:Limb

Mesomelic Rhizomelic Proximal

. acrumelic distal

. ( )

87
 .

Ulna Dinner ferk Mode lange defarmiting

Leriwill Turner syndrome
. dyschondrostosis

Nail patella syndrome (Patella)

. trisomy8 mosaisicism Popliteal web syndrome

.(TAR) thrombocytopenia absent radi . AGSE syndrome. Fanconi anemia

. .

Aas syndrome
Holt oram syndrome
Trisomy18.
VATER association

. .

( ) Arachnodactyly|

( ) Brachydactyly

( ) Comptodactyly

( ) Clinodactyly

88
 ( ) Macrodactyly

( ) Polydactyly
( ) Syndactyly
Marfan syndrome Arachnodactyly
.
. archondroplasia ,Aarskog syndrome Brachydactyly
E A Brachydactyly

Turner syndrome Hypoparathyroidism

.
Arthrogryposis :Comptodactyly
Tisomy18 Beal syndrome Contricture
.

labster claw deformity :Ectrodactyly

E.E.C
.( ) (Ectodermal dysplasia, ectrodactyly, Clift lip clift plate)
:Clinodactyly
.( ) Silverrussel syndrome Down syndrome
..( ) Protemal syndrome :Macrodytyly
Proxial :polydactyly
post axial Fibula Unlne polydactyly

Post axial .
Afrocariban
.

89
 Cutaneus syndactyly :Syndacatyly
osseous syndactyly
Cutaneus syndcatyluy
.( ) .

.( ) :Syndactyly
Carpenter syndrome (pseudosyndactyly) .
Ellisvan creaveld syndrome
Mitten hand))Apert syndame .
Jeune thoracic dystrophy
Lourarance moon biedel syndrome Grieg syndrome .
Mc Kusick Kaufman syndrome oral facial digital syndrome
Meckle syndrome
Oral facial digital syndrome Poland sequence
Popliteal hall syndrome Seathree Chotzen syndrome .
Trisomy13
.smith lemli opitz syndrome .
.Triplody

:Ectodermal Structure)

.( ) (Ectodermal sysplasia

(% ) :
. (% ) Down syndrome (Semias)Creaes

peno shokeir . Fetal akinesia Creases

pheno type

90
 Gohansmon , blizzard syndrome Punched out
.( ) Distal Adom oliver syndrome Trisume13/
. .

Hypumelanosis . Diploidy/Triplody Masaic

of I to

X-linked
Incontinent pigmenti . chandorplasia punctata

Storage Conella de lagre syndrome (Hirsutism)

Ectrodurmal Dysplasia disorder
. Menke dieases E.E.C

( ) Noonan syndroem
.( ) Wardenberg Syndrome

.( ) .... Cafeau lait spot

Bloom Syndrome

Fanconi anemia

(Whorled)incontinentia pigmenti

(Lentigines) LEOPARD syndrome

Mc cune Albright syndrome

Neurofibromatosis 1&2.

91
 (Mucucutaneous) peutz jeghers syndrome

Hypomelanosis of Ito

Oculo cutaneous albinism

Piebaldism
Tuberaus sclerosis
Waardenburge syndrome
:

Ellisvan Dyskeratosis Congenita

Nail patella syndrome creaveld syndrome
.Phenytoin
Croniu frontonasal dysplasia
.( ) ... Croniusynostosis

:
.
over Ellisvan creaveled syndrome
. growth
Cleidocranial dysostosis (Hypodentia)
. incissor
osteogenesis impefecta
. ( )
.. Goltz syndrome pseudo hypoparathyroidism Enamel

.( )

. Imaging
_: Standard Chromosomal analysis
92
 ( - )

Ambigous genitalia
.( )
%
(% - )
FISH

Specialyzed chromosom analysis:

.( )

x :Fragile –x syndrome
Folate
. Direct DNA mutation analysis
Envitro :Chromosomal breakage syndrome
UY .C : Mitomycin
.( ) .
.( ) xero dermia pigmentosia Fanconi anemea Blorm syndrome, ataxia telangectasia

DNA probe :Microdilation syndrome

.( ) FISH

: Molecular genetic analysis

93
 Congenital Myotonic dystrophy Fragile x- syndrome
. Triplent repeat expansia
Proder willi angelman syndrome
DNA syndrome
.
Imprinting UPD Deletion
.( )

Hb. H. inclusion

Noonan (ATR-x syndrome)X linked alfa . Thalsiemia / mental retardation

. (% ) syndrome

Fonconi anemia Thrombocytoponia absent radoius syndroem (TAR syndrome)

Smith lemli opetz syndrome

. cholesterol Dehydro
.( )
:
(x. ray)
X-ray

Sotos syndrome overgrowth one age

Bone age Silvers russel syndrome Weaker syndrome

Langer Giedian syndrome Epiphysis

( ) Trichorhino Phalangeal syndrome

94
 Osteogenesis imperfecta Clirocroneal dysustosis Wermian
Gorlin syndrome Gordnder syndrome (cyst)
.( ) . .bifercation

: Perinatal

.
.
X-
.( ) . ray

Genetic Counseling
( )
( )
.
-
-
. ( ) -
. -
. Teratogen -
. -

:
.
-
. -
. -
. Prenatal Diagnosis -

95
 :

Aneuploidy
: : (Down syndrome) Trisomy21

IQ
. ( - )

Down syndrome . ( -
) Brachy cephlay
(Pinnna Epicanthol fold
.

96
 Dwon Syndrome : -

% . / /

Deudenal atresia Esophageal atresia

Hypotonia
Transient leukemia recation Pulycythemia

Thyroid dysfunction
atlantnto occipial instabilla celic

- ) .
( ) (

( ) Trisomy 18 syndrom
. :

97
 .
rocker bottom feet
PDA USD . overlapping
. .

early Childhood
. (adult hood ) .
( ). Mental retardation

Trisomy13 syndrome
( )
%

( )
(Coloboma anophthalmia) arrhincephaly
( ) (VSD ) Syndactyly .

98
 ( - )

Failure to thrive
Apniec spells
.( )

: Aneuplody

.
.
99
 FISH
.( ) supportive

:(Genetic Counselling)

.
:
:
:
:
( - ) /

. % .
/
.
.

.( ) .

(Gonadal dysgenesis Monosomy x Turner syndrome)

%
% Miscarriage
100
 .

( ) webbed neck
.

Turner Syndrome : -

101
 ( )
. Amenorrhea, Streak overies.

(Coarctation of aota)
Gonado balastoma Dysgenetic goned
. .

Pseudohypoparathy roidism Noonan syndrome

.

osteoporosis
. Grwoth harmone

Fertility x Mosaicism x
30%)
( Stillbirth % - Miscarriage
.
Prenatal
.( )

102
 :Klinefelter syndrome

Klinefelter ( )
(% )
klinefelter (% ) infertility .
. .. syndrome

Prenatal
.

( azospermia ) Microorchidism
.
. Eunuchoid

(xxxxy, xxxy) x Klinefelter

(Radioulner synostosis)
xxxxy Cryptorchidime
.

(Testosteron) Klinefelter
.( )

:Xyy syndrome

Early Childhood

103
 (Fertility)
.
.( ) IQ

:XXX syndrome

XXXX ( Low I Q )
XXX XXXX
..( ) .

:Mosaiscism

) Mosaic
( ). (

:Trisomy8 syndrome

.
. Pinna

( ). Cognition

104
 :Cat eye syndrome

( )
Cat eye syndrome Iris
:
,Anal atresia : pinna
.( ) .

:
.

) Aneuploidy
Deletion (
Contigous gene syndrome
.( ) FISH

:Wolf hirsch horn syndrome

( 4P16) 4P -
. orbit ( )

(ancient

greek warriors helmet)

.

.( )

105
 :Cri Du chat syndrome

5P-
(cat cry)
.( )

:William syndrome

Elastin gene Contigous gene

Vq 11,2
(Elfin like) Supravalvular aortic stenosis

.( ) .

William syndrome -

Elastin FISH
Probe
.

106
 .

osteoarthritis
.( )

:Langer Giedian syndrome

Tricho rhino phalangeal syndrome typII

( Bulbous )
Exostosis Epiphysis
Ehlers danlos syndrome
.( ) .

:(WAGR) aniridia wilm tumur association

( p ) WAGR association
WAGR Ptosis cataract aniridia
Wilm association
. :

Genitourinary aniridia ,wilm tumur WAGR Association

.( )retardation abnormalities

107
 :Miller Dieker syndrome

p11 Contigous gene

Dysgenesis
.

(Smooth brain) Lissencephaly

Dyri

Grove Millar D. syndrome

Critical MDSI .
isolated lissenceplay
. Lissencephaly
.( ) . Cogenition

: Smith magenis syndrome

17P11
Cuppid shaped upperlip

.
. Melatonia

prepheral nenropathy PMP

( )

108
 :Del- 22q 11 syndrome

Digearge
.

Immune difficiency .
.

22 q

opitz, Shprintzen syndrome (VCFS) Velocardofacial syndrome

.BBB syndrome Cayler Cardofacial syndrome , syndrome

(ASD VSD)
emotional liability
.( ) psychosis hypospodiasis

Cafean lastsport
.

. Plaxiform
109
 Freckling
.(iris Hemartomas) Lish nodules
Opitc glioma
Pseudoarthrosis
( ) .(First degree relative)
:

Ethric /
.

.
acoustic neuroma
.( )

% Café aulait macules

( - )
.

(Schwan)
Plexiform Discrete
Discrete
.

. Plexiform

110
 Slit lamp Lisch nodule
) :
. Scoliosis ( X- ray ) .. (

IQ Plexiform
usual perception
.( ) .

. Leopard syndrome Noonam syndrome, Albright Syndrome

café aulait sport Isulated neurofibromatosis

)
.( ) (

%
% optic glaioma % .
.
.( ) .

111
 . .
Scoliosis
optic glaioma
.( )

:(Prognosis)

.( )

( )
. Tumur suppressor

. %
( ). lish nodules

112
 :Marfan syndrome

Fibrilline
.

,Hyper extensibility ( tall stature Arachnodactyly )

. ( (aortic rootdilation

Major criteria

Hyper extensibility
.
. .
Aneurysm
.
.

echocardiogram

. Homocystinuria

(E.D.S) Ehler danlos syndrome

Fragility Hyper extensibility .
.

( ) E.D.S
( )

113
 :Achondroplasia

FGFR3
Trident shape Dwarfism Short limb
.

Foramen magnum Cognition

.

.
Gibbus Lordosis
.

Ilizaroff
.
% Hemizygous
.( ) FGFR3

:(OI) oisteogenesis imperfecta

Brittle bone disease oisteogenesis imperfecta

Type I Collagen

. O. I

114
 osteogenesis imperfecta type III -

.
. type.II
.
pamedronate O.I
.. Density
.( )

:Craniosynostosis syndromes

FGFR

crouzon syndorme

. orbit
( proptosis )

115
 . : -

.
Shunt

Jackson wiess syndrome Apert syndromne, Pfeiffer syndrome

.( ) .... Seathre chotzen syndrome

:Treacher Collin syndrome

Molar hypoplasia Cranio facial Treacher collin

. (Coloboma)

116
 IQ
.( ) oq 32-33,2

:
CFTR :Cystic fibrosis
. ( ) Carrier
.(Caucasion)
alfa- alfa
. sweat chloride assay .
.Mutation assay PCR-base American College of Medical genetic
(% - )
.
prenatal (Carrier)
.
DNA Haplotyping, linkage anlaysis

assay %
.( ) trypsinogen

:(SLOS) Smith lemli opitz syndrome

: :
.

dehydrocholesterol.
.
SLOS

Growth failure

117
 .
.( ) Growth failure

:(SNHL) Sensonural hearing loss

SNHL Nonsyndormic
-:
.

prelingual (cx26) Connexin SNHL

Contacting Gap junction Gap junction Protein % deafness
adherent cells
Coneexine Connexine . Cell to cells
.( ) .

:(SMA) spinal muscular atrophy

Anterior horn cells

.
Apoptosis SMN Q

: .
.

SMA
.

- : SMA I
.
Fasciculatin

118
 .

(Adolescent ) - : SMAII
.

Converssion Deletion, duplication - : SMA III

.

. Exon % SMA
( )

:( ) Metabolic disorders

(inborn error of metabolism)

.( )

. ( IEM) (IEM)

:(IEM) inborn error of metabolism

IEM
.( )

( ) (IEM)

( ) ( - )
x- linked
.( ) .

.( ) IEM

: :

.Alcaptonuria :Aminoaciduria

119
 .Argenenemia ,cetrullinemia, CPS diffiecincy :

.Methyl, propionic acidemia ,Isovaleric acidemia :

.Malonic acidemia
Maple syrup urin disease :Branch Chain disorder

:(lipid) :
acyl co A dehydrogenase :
.Adrenoleuko dystrophy ,Zelweger syndrome - : Peroxisomal

-:
Gaucher disease Tay sach disease GM I Gangliosidosis :Lipidosis
Metachromatic leukodystrphy, Niemman pick disease
:
. ( type type )

.Canavan disease , Sialidosis :

Familial hypercholesterolemia :

: :
(type XIV Type I) :

. UDPG Epimerase :

.Fractosemia ,Fractose intolerance :

.leigh disease Pyruvate dehydrogenase :

.( ) .... :
DHP , Orotic acidemia AMP deaminase, lesh Nyhan syndrome
. .dehydrogenase

:(Miscellaneous ) :
.( ) .... Alfa -I antitrypsin diffiecincy, wilson disease,porphyria
:
120
 Wardengurg syndrome, Methemoglobinemia, albinism
Gilbert syndrome, Dubin Gohnson syndrome, Crigler nagar syndrome
( ) .... Primary Haemochromatosis, Roter syndrome

:
:Phenyl ketonuria
.Hydroxylase phenylalanin
.

. CSF

Maturation Mylination

.( )

121
 . -

:
.
Hyperkinesis
Tyrosinase

Iris
.
. Eczema Rash
musty Phenyl acetic acid
.( ) smell

122
 :
PKU
5ml/ dl 20mg/ kg
Guthrie ferric chloride

.( )

. .

( ) ( - )

: Tyrosinemia
fumaryl aceto acetate Trait .(TT 1) :Tyrosinemia type 1
.hydrolase

(Cabbagelike : (TT 1)
. .odor)

.
. Polyneuropathy Vit D resistance reckits

.( ).. .

123
 .(Oculocutaneous tyrosinemia) tyrosinemia type 2

tyrosin transaminase

. Hyperkeratosis

:
Liver transplantation .
.( ) ..

B. Hydroxy phenyl pyruvic acid oxidase

. Lethergy

Vitamin C
( ).

Albinisim:
. Tyrosinase

:OCulocutaneous albinisim
.

.( ) . X- linked Ocular Albinisim

..( ) :Partial albinisim

124
Oculocutaneous
.( ) Ocular Albinisim albinisim

. Iris

( - )

(iris )
Nystagmus Visual Acuity Photophobia
.
Oculocutaneous albinisim Chediak Higashi syndrome
.( ) Pyogenic Neutropenia

:Alcaptonuria
Garrod
Homogentistic Homogentistic acid oxidase
( ). acid
125
 Homogentistic
.( )

:
.
.( Canthi ) .
ochronosis
Homogentistic acid

arthritis osteo Degeneration

achronotic arthritis .
.
Glucose Benedict Fehling
.( ) oxidase

126
 :
ochronotic ascarbic acid .
.
HGA Nitisinon
.( ) .

:Homo cystinuria
.
. Cystathionin synthetase : type
Serin homo cystein ,Cystathionin

: -

Homocystein
.( ) .

127
 :

-
. Subluxation
Cystein .

Cystathionin
Hegman Platelet
factore

.
. .osteoporosis

NS methyl tetrahydrofolate
.

Pyridoxin
1-5 mg Methionin
.( )

N5. Metyl T.H.F. metyl transferase TypeII

Methionin . Methyl B 12
. , Dementia .

. Methionin Vit B12

N5-10 methyl tetra hydrofolate reductase - : Type III

N5 methyl tetra hydrofolate

128
 .

Ectopia lentis Homocystinuria

.

Cyanide nitroprusside
.( ) .

:Cystinuria

argenin lysin, cystien ) Clearance

(orthenin
Ridio opaque
.

.( ) . cyanide nitroprusside

129
 :

(>1.5/lit/m2/day)
PH
Tiopromin D penicillamin .
sulfhydril

disulfide
.

.( ) Captoprill

:Hart nup disease

Nicotinic acid
.( ) ...

Indoxyl Indol

Kynurenin Nicotinamid
Hartnup
.( )

Hartnup
photosensitivity

130
Indolic cerbellar. ataxia
( ) acid

Hart nup
.( ) .

Nicotinic acid pellagra

.( )

. ( - )
( )

: Branch Chain

Branch chain
. Isoleucine, Leucine, Valine

(IVA) (MSUD) maple syrup unrin disease

.(MMA) Acidemia Methyl malonic (PA) Propinic acidemia Isovaleric acidemia

Distres
Keto acidosis, Ketosis

. IVA Sweaty feet oder MSUD Maplesyrupe

PA IUA, MMA
. Sepsis

131
 acyl carnitin
mass Gas Chormatography
( ) Tandem MS-MS spectrometry

Peritunial dialysis Exchange transfusion

Supplement carboxylase
.( ) Vit B12

Carnitin

:Maple syrup urin disease

Brach chain 2. Oxoacid

(BCOA.DH) dehydrogenase complex

2. Oxoacid (BCOA) (BCAA) Branch cahin L Amino acid
. CSF

( )

.( ) .

132
 :

Spasticity,Ataxia

.
. Leucine

( )

2-4 navy blue

.( ) Guthri test Nitro phenyl hydrasin

: . Valine

BCAA maple syrup

. ( Say)
. (Vit B1) Thiamin

Peritonial ( ) acute exacerbation

dailysis

..( )

transplantation
.( ) .

133
 :

.( )

: . -

ATP

. ( 200 mmol/ lit )

Citrullinemenia
. Hyperargenemia arginenosuccinic acidemia
.( )

:
.
. .
. Ataxia

134
 (muscular regidity)
arginenosuccinic acidemia . Opisthotonus

.
.( ) ( )

( ) Hyperammonenic
25gm/ kg )
1-10g 0.
low protien diet .
( - ) Sodium benzoate .
. -
.

argenin ( - ) Sodium phenyl ecetate

. -
. Carnitine

. ( )

.( )

135
 :

:Galactosemia

Galactose 1 Phosphate
. Galactokinase

Galactose 1 Phosphate (Uridyl diphsophoglucose) UDP glucose,

. Glucose 1. Phosphate UDP galactose

. . -

. Galactose 1phosphate uridyl transferase

- Galactosemia

.
136
 Galatilol Galactilol Aldose reductase
Galcotse dehydogenase
. Galactonic Acid

: Galactose.1. phosphate uridyl transferase

. Gataract

Failure to Thrive ,
Galactilol, Cataract .
-
.( ) .

Galactokinase diffiecinecy:

Catchexia
.( ) Glactilol

Galactose free

(mental retardation)

.( )

137
 :(Glycgen storage disorder)

portal system
( (Glucose 4 phospate, Glucose 1 phospate
.

(1-6 and x1-4)

Glocuse 6 phosptase .

( ) Glycogenolysis

). . -

138
 . -

.( )

-: :

,(amylopectinosis) type (forbe or limit dextrinosis) typeIII (Von gierk disease) type
.type x type IX , type VII, type VI IV

:
.failure to thrive

139
.(overnight fasting)

. Hyperlipedimia type I
.
.( )

-:

:Type II a (pompe disease)

PR Left axis deviation ECG Globular

. Wide QRS

. dyspnea

acid maltase
.

.( ) Enzyme replacement therapy

:.

type VII (MC-Ardle) type V (limit dextrinosis, forbes) type III Type II b
.
.( ) .

140
 :

(Forbes diseases typeIII ,limit dextrinosis) debrancher enzyme diffieciencey.

(type IV Anderson amylopectinosis) brancher enzyme diffieciencey

((Bracnch point Limit dextrinosis

.
brancher enzyme type IV
. Branch points

early
. cirrhosis

type I type III . type IV III

.Galactose infusion
type III

Hyperglycemia
. Dephosphorylation

. Isolated hephatomegaly

.( )

141
 :
)
(
.(NGT)

.
.( ) type IV, type III, type I
:
(MPS) metabolic disorders of mucopolysaccharides

Hunter syndrome .
x linked Hunter syndrome
. recessive trait
.( )

Dermatan sulfate, chondrotine 6 sulfate, chondrotin. .4sulfate hyaluronic acid

. Heprine sulfate

( )

Dysotosis multiplex .Coarse face MPS

+ + + + + Hurler /I. H

+ _ _ _ _ Scheie/IS

_ + + + + Hunter.II

_ _ _ _ + Sanifilipo/III

+ + _ _ _ Morquio/ IV

142
 :

FDA type I
type VI IV type , type II (Enzyme replacement )
transplantation MPS VI MPS I
.( )

. ( )

.
.

. Glycosaminoglycone
Mucopolysaccharidosis
Glycopeptide
. Glycoproteinosis

x Fabry desease Glycoliped /

. linked

(Foamy)
foam cell
.

.( )

.( )

143
 Bulbar sign Cehrry redspot

_ + + + + Ganglosidosis GM 1

+ + + + _ Gaucher diseases
_ + _ _ _ Krabbe diseases

_ _ + _ + Methachoromatic leucodystrophy

_ + + + + Multiple sulfatase deffiecincey

_ + _ + + Niemann pick diseases

_ _ + + + Sand hoff diseases

:Gaucher diseases

Gluco cerebrosidase
Glucosyl ceramid Glucosyl ceramid
Laden . cerebroside
.cells
.( ) . Gaucher cell

Gaucher cell
)
: .( ) (

144
 . : (chronic non neuropathic) Type I

:(Acuto neuropathic ) type II

.

:(chronic neuropathic ) Type III

.

Recombinant glucocerebrosidase
OGT .
.( )

:Metachromatic leukodystrophy

Sulfated
glycossphingolipid
White Matter

.
.( )

,
. (incoordination)

145
planter ankle reflex brisk knee jerk
. response

aryl sulfatase
.( )

tranplantation
.( )

:GM1. Gangliosidosis

: Type I

x Cherry red spot Macula

GM1. Gangliosidosis Dysostosis ray
.

( - ) : Type II
( )
( )

:GM2. Gangliosidosis

: GM2. Ganglioside

Hexose (typeI) taysach .

. aminidase A

146
 aminidase B Hexose Hexose aminidase A Sand hoff
.( )

:Taysach disease

Ashkenazi
.

. ( Consanguinity )
. Gangliosid GM2– Hexose aminidase
GM2 Gangliosid
Apathy .
(Visual defect )
spastic ,
.
- Cherry red spot Fundus (Retina)
.( ) .

:Sandhoff disease
.( ) tysach

:Niemann pick disease

Sphingomyelinase
sphingomyelin
.
) . Macula Cherry red spot /
. . (
. Niemann pick cells
.( ) . Milliry TB X- ray

147
 :
.

. :
:
,Hypertryglyceridemia, Familial hypercholesterolemia
.( ) .. Abeta lipoproteinemia
(Apo B ) A polipoprotein B :Abeta lipoproteinemia
Apo. B .
:
. low density beta lipoprotien .
. .
incooporation . (apuprtien) lipoprotiens .

.
.
(tremor) Retinitis pigmentosa
. .position Vibration , athetosis

. Achontocytosis
.( )

: Peroxisomal
. subcellular Peroxisomes
148
 Phytonic acid Catalases
(IRD) infantile (MALD) Neonatal adrenoleuko dystrophy .(ZS) Zellweger syndrome
refsum disease.
. (PBD) peroxisome biogenesis disorders
.
IRS (ZS)
( ) PBD
. PEX1 CG (CGs)
PEXI (% ) PBDs
nystagmus Multisystemic
,
(UMP)
.
. White matter MRI
( )

:(miscellaneous disorder )

: Alfa 1. Antitrypsin difficiency

(PI) protease inhibator Alfa 1 antitrypsin

alfa 1 antitrypsine . pi M type (% )

Polymerized alfa 1 hepatocyte (0.8- 1.8)
. anitrypsine

.( ) Emphysema

149
 Piz
.

pi Null 0.6 gm / lit alfa 1 anitrypsine Piz

.

( ) Childhood
(Adulthood) Cholestasis
.

:
.panniculitis

alfa 1 antitrypsine
.( ) . Pi phenotyping Genotyping

.alfa 1 antitrypsine

Liver transplantation
.( )

:Wilson disease

(Copper)
( )
.

Wilson
150
 metalothionin

( - )
.
.
.

. kayser fleisher ring

Ceroloplasmin
.( )

.
( )

: Hepatic dysfunction
-
. Chronic active hepatitis .

older childern :
posture ( Regidity )
Parkinsonism Cerebeller ataxia .
.

(KF) kayser fleisher ring

151
 . Slit lamp .
ring .
( ).
.

Ceroluplasmin
. (K.F)

. ( )
penicillamin challenge
.

. Liver function test

Severe kwashiorkor ,nephrosis

malabsorption syndrome
.
Billiary . wilson disease
.( ) Toxic Cirrhosis Cirrhosis

.Chocolate Nuts, shellpish

- - .Penicillamin
.

152
 . copper

resh Penicillamin
.
Penicillamin
glumerulunephritis Immen complex lupus like
.Tri ethylene tetramin dihydrochloride
( ). .

:X- Linked inheritance

Deuchene type musculer dystrophy:

Cytoskeletal (DMD) duchen musculare dystrophy.
x dystrophin
( ) x P 12
XP DMD
Becker Muscular dystrophy
DMD
.

Proximal ( - ) DMD
. Pseudo dystrophy Caff
(CK) Createnin kinase DMD .
( )
.

(BMD) Becker Muscular dystrophy

.
% Target dystropine

153
 . duplication deletion

. Immunohistochemistry

/ DMD
.( ) DMD

:.(Haemophilia )

( ) Haemophilia

(Bruising)

Prenatal Carrier . x-q

.

( - )

.( )

: Apert syndrome
( ) . nephropathy
Collagen IV alfa chain
. Collagen IV A3

( )

154
 ( inborn error of metabolism )
( ) Adrenoleuko dystrophy

:Adrenoleuko dystrophy

( )
, Dysartheria
.Decorticate posturing Quadraparesis Spastic
.( ) /

Acylco A synthetase x- linked recessive

long chain Fatty acid ACTH .
.( ) ( - )

(x- linked adrenoleukodystrophy) x-ALD

(white matter)
- cerebral childhood form
attention deficit disorder .
(cognition)
. (disability)
(AMN) adrenomyeloneurapathy
paraparesis : .

Addison disease
. .

155
 . ( AMN )

AMN Carrier %
. ( )

:Diagnosis/ testing

very long chain fatty % X-ALD

(VLCFA) acids
Carrier %
ABCD 1 gene

. (Carrier)

1:20000-1:50000

156
 :

symptomatic : X-ALD
asymptomatic
.

:Symptomatic Males

corticosteroid ( )
X-ALD . .
corticosteriod
X- ALD
.
MRI (Childhood cerebral form ) set 1

. .(BMT) Bone marrow transplantation

BMT BMT IQ
.Mortality Morbidity %
MRI MRI
IQ .
(neuropsychological dysfunction )
.

157
 .

Lorenzo oil therapy

Lovastatin .
( ). 4- phenylbutyrate

:Non-mendelian inheritance

: Imprinting

(Macrosomia : : Beckwith wledemen syndrome

.omphalocele (Macroglosia) )

Expression 11 P
.Creases )
infantile Hypoglycemia
.( wilm tumur % - ).

Imprinting (IGF2) Growth factore

. Express IGF

paternal UPD Bws paternal 11 P 10 region

Duplication Transcription IGF2
Tumure supperesser gene (H19) .
.

% imprinting. BWS
. Wilm tumure BWS imprinting
. (LOI) Loss of imprinting Coding H19 IGF 2 %

158
 ( )
.( ) .

:Prader willi syndrome

. expression .Imprinted
Prader willi q11 SNRPN
.

. .gastrostomy

strabismus Older children

. Hypogenitalism

Growth Hormones
type 2 diabetis Obseseive hyperphagia -
.( ) mellitus

:Angelment syndrome

imprinting
SNRPN UBE3A Ubiquitin protein ligase
. ( )

Motor mlston (Prognatism )

Puppef like gait

: tung thrusting (paroxysmal laughter)

.( ) VBEzA Anglman

159
 :UPD -7

UPD V imprinted
Cystic fibrosis delta -f- ( )
Sliver russel
Imprinting UPD . Dwarfism
.

: Anitcipation

:Myotonic dystrophy ( )
Frontal balding
.Cataract

protein ( )
CTG untranslated - prime kinase
CTG repeat ( - ) . trinucleotide repeat
( ) .
( ) Cataract

.( ) (Expansion )
.

( - )

) ( - )
160
 repeat expansion (Arthrogryposis
Floppy infant . .
Myotonia
CTG repeat
( ) diagnostic molecular testing

:Fried reiches ataxia ( )

. FDRA

( - ) . Teenage
GAA GAA repeat
.( ) .

161
 :Fragile –x- syndrome ( )

(Mental retardation)
. FMR 1

- ) CGG
prematuration CGG repeat (
Full CGG repeat
CPG Island GGG expansion maturation
.

( large testes) (long face)

. Hyperextensible
. infantile autism .
. ( )

fragile –x- syndrome

. Full maturation
.( )

: mitochondrial inhertance

Seminar American journal of medical genetics

in Medical Genetics
mt (mt DNA) DNA
. (Rearrangement) DNA

oxidative phosporylation

162
 . .

Dysfunction

(Growth failure)
.( )

:MELAS

.stroke like episod lactic acidosis mitochondrial encephalopathy Melas

.
stroke
.

.( ) ...tRNA leu gene (A3 243 G) MELAS

:MERF

Ragged red fiber Myoclonic epilepsy MERF

.Myoclonus .
.

.(A8 344 G) (tRNA lys gene)

( ). missense mutation

:LEIGH. Sub acude mecrotizing encephalomyopathy

leights leighs disease

Extrapyramidal , Milestone disease
Dysfunction
.

163
 athetoid Choreo
Fulure to thirve

. MRI

complex II Complex I .
Leghis Complex II DNA Complex IV
( ).

:Multifactorial inheritance

: Cleft lips and cleft plate

Isolated Cleft plate Cleft lip

.

.( ) ( . . . )

164
 :

) primary cleft plate

secondry Cleft plate ( Gingival ridge
.. (

Isolated
. Horseshoe. Cleft V. Shaped

) Glossoptosis micronathia
. Pierre robin sequece (

%( - )
% Pierre- robin sequence
.( )

.
Non syndromic
.( )

:Non Syndromic Cleftlip & cleft plate

. %( - )

165
 :Syndromic Clift lip& cleft plate

. (CL) (CP)

:
.(CL/CP or CP)
(CP) Fetal alcohol syndrome
(CL/ CP) Amniotic band sequence
:
.(CL/ CP) .
.(CL/CP) Wolf hirsch horn sydrome
(CP) .Shprintzen syndrome
: Single Gene
AD (CL/CP or CP) .Vander woude syndrome
AD (CP) .Treacher collin syndrome
AD (CP) Stickler syndrome
AD (CP) .Smith lemli opitz syndrome

(CP) Mobius syndrome

(CP) .Cornelia dalange syndrome
:
AD
.AR

166
 :

(Hypernasality)
.( ) orthodentic (articulation error )

.
.
.

FISH
. x-ray

Prenatal

.( )

(NTD) Neural tube. Defect:

.

Sacral agenesis Mylomeningocele, spina bifida, encephpalocele, anencephaly

.dysraphism .Sacral lipoma

Closer site Closer site

. Closer site
.

Arrnol chiari typeII

.

167
Sacral
. Caudal regression syndrome agenesis

: . -

( ) rachischisis NTD
:
(tuft) hemangioma
.(creases )

MRI CT scane
Club (leasion)
NTD . feet

168
. Neurogenic Bowl Neurogenic Bladder

NTD
.( )

. NTD
NTD
NTD (Valproate)

.( )

Open NTD .Neurosurgical

.

( - )
.
. ventricoloperitonial shunt

. %
. (Malfunction)

abducence Arnold chiarri type

( apnea stridor )

chiarri
169
 ( )

NTD :

-:
. continence
catheterization . sympathomemetic

. .

) incontinence
rectal stimulant laxative
( ante grade . Continence (
Enema) A C E
Enema

.( )

:( ) NTD

.
latex Spina bifida
non latex

. Cognition Spina bifida .

CNS .

170
 NTD . Sacral lipoma
Scoliosis
. ( ).

isolated (Recurrent risk) NTD

%( - ) NTD
spina . % - .
% bifida

open NTD prenatal

alfa fetoprotein ( - )
acetyl cholin esterase alfa fetoprotein
. (% ) NTD

NTD

NTD .
. 4mg
. Conotrunkal heart defect Conception
.( )

:Arthrogryposis multiplex

Constrain

171
 . CNS

.
.

Imaging
( very longe chain ) peroxisomal

.
myotonic dystrophy Cataract .
.( ) myotonia

:CHARGE association

Rostral neural crest

. Mid brain

, coloboma CHARGE
Genital Growth retardation Choanal atresia Congenital heart disease

. (ear) Hypogenitalism Abnormalities

. .

. ( ).

:Cornelia delange syndrome

172
 % ( ) %
.

(synophrys) hirsutism
.
.( )

: Goldenhar syndrome
vertebro auriculo facial syndrome
Hemifacial
( ) Macrosomia
pinna
Epibulbar . Anotia
Chiarri type I . dermiod
.( )
.
.( )

: Kabuki syndrome

. pinna Fissure )
sporadaic
.( )

:Noonan syndrome

.low set ear Fissures webbedneck

173
 locus q
.( )

: (Potter sequence:) oligo hydroamniose sequence

.( Club feet ). posture

(sub orbital
retrognatia (Depressed nose tip) lowest ear creases)

renal agenisis , leakage

.( ) Uropathy

:Opitz G/ BBB

(Carpus
Hypospadiasis Collosum)
.

Gastroesophagial
. reflux

Dubbed M-101
shprintzen q
.

174
 .( )

: Over growth syndromes

( )

bone age .
sotos syndrome
.

over growth
.

(SGB) sim pson golabi behmel syndrome, Beckwith wiedeman syndrome,

. (BRR) Banayan riley ruvalkaba syndrome

Beckwith wiedeman (SGB)

pholydactyly SGB
BRR . BWS
. ( ) penis

BRR
.( ) .

: Rubenstin taybi syndrome

:
growth failure
%
.( ) .

175
 : Syndromic short stature

. intrinsic short stature

silver russel syndrome

. .pseudohydrocephaly

. ( )( UPD Clinodactyly )

:VACTERL association

malformation Cardiac ,imperforated anus, vertebral defect,

limb renal anomalies Tracheo esophageal fistula , (VSD )
.( radius ) anomaly

.
blastogenesis
sonic hedgehog pathway
..( ) .

Perinatal genetic
Teratogen:

. .
%
(% ) .
.
( )
176
 . organogenesis

Threshold. Effect) (Dose)

(

. Epoxide Phenytion

5.- Methyl tetrahydrofolate Folate methylation pathway

Folic acid NTD
. ( ) NTD

Scarring Constraining
.

DNA . DNA
.

- : (Category A ) :

- : (category B )
. .
.

(category C) :
. .

177
 data

. ( category D )

streptomycin

(category x ) : x

warfarine .
.Vit K
Osteocalcine .carboxylation Gama -carboxyglutamic acid
( - ) Vit K
. ( warfarine )

propyl thiouracil

Epoxide hydrolase Phenytoin

. .

( ). diabet

178
 ( )

( )
Aminopterin /amethopterin
Isotretoin
Lithium Busulfan
Phenytoin Chlorobi phenyl
Cocaine
Propylthiouracil
Cyclophosphamide
Tetracycline
Di ethyl stillbesterol
Trimethadion Iodide
Warfarin

Cancer therapy

Graves disease
Varicella
Venezuelan aquine encephalaits virus Insuline dependent diabetis mellitus

May asthenia gravis

179
 : (FAS ) fatal alclohol syndrome

% .. OZ
fetal alcohol syndrome

philtrum
anteverted
NTD
( )

%
.
Cleft plate Cleft lip , anteverted nares

valproicacid phenytoin
tegretol spina bifida
( )

- : Ritinoic acid Embryopathy

Vit A
/ Acne isotretinoin retinoid
vat A
rostral neural creast cells
posterior fosa .
tracheo ( ) ( pinna ) ,
esophageal fistoula
180
. Di- Georg
( )

( )

:Maternal substances abuse

Perenatal
. . Miscarriage

.
.
fetal alchhoal syndrome
(rackbaby syndrom e )

.( )

: (prenatal diagnosis)

. prenatal diagnosis (% - )

prenatal diagnosi

care
.

181
 Imaging
.( )
(triple screen) HCG Estriol, alfa.- Fetoproein Screening
-
Neural tube defect
Smith lemli opitz syndrome
.( )

(structrual defects.)
Fetal hydrops

x- ray

MRI
.Amniocentesis
:karyotyping

alfa Fetoprotein NTD

.
:Chorionic villous sampling
:karyotyping
.
:(Fetal tissue
. Percutaneous umblical
.
.( ) Fetoscopy
.( ) MRI

182
 - :( Maternal blood )

alfa Fetoprotein
% open neural tube defect
(% ) alfa Fetoprotein Down syndrome
unconjugated stradiol HCG
%
.

smith lemli opitz syndrome stradiol

.

PCR Hybridization
.( )

omphalocele alfa Fetoprotein

unconjugated stradiol alfa Fetoprotein
Turner syndrome Estradiol alfa Fetoprotein
.
.( ) ( - )

:(Amniocentesis) .

( )

. :spontaneous abortion .
. (leakage) .

183
 . .
.( ) .

alfa
.( ) Fetoprotein

- : Chorionic villous:Placental sampling .

( - )
cervix
.( ) Truans abdominal

.( ) Chorioamnionitis %( . - )

.
(Cytotrophoblast) Rapid karyotyping
. DNA .

(Villi) .(Confined placental mosaicism)

.

.(PUBS) percutaneous umbilical blood sampling

.
.( )

. .
. .

184
 Carrer .
. .
DNA analysis .
.
. .
truplet screen .
.
. .
.( )
:Fetal ultrasono graphy

. .
. .
. .
- ) . Fetal ultrasono logist
(
.(Limbs)
. Transvaginal ultrasono graphy imaging
.

( ) non invoiceve MRI

.

x- ray
x. ray
.( )

185
 .

Mental retardation .(% )

prenatal
Neurodegenerative Skills
.

( )
.
autistic autism obsessive Compulsive disorders .Hyperactivity disorders, attentiondeficit
..like behaviors

Gene tisist

. imaging
. neuro imaging

Molecular genetic testing

.( )

186
 .

:
.

( )
.

psychosocial miletone ( )
( )
(loss of skill )

:
.

( .pregnancy outcomes )
.
.(Consanguinity )

:
. Dermotoglyphics

.
.

: Imaging
187
 .
(high resolution analysis )
(analysis of FMRI gene for triplet repeats) fragile x. testing
FISH analysis by dysmorphic features.
Completed blood count
.Pyrovate, lactate , Createnin kinase

-:

. (Recurrent risk) ( )

.( )

188
Genetic counseling

Prenatal

( )

189
 :

Neural tube defect ,Asthma

( First degree relative )

( S T D)

Major defect Minor defect

x linked Dominat
190
 Still birth

Genetic Heterogenity
Recominant DNA
Technology

191
 Genetic

% % % %

% % - ( )
- (% )
%

Germ line mutation AND

Daughter cell
Anaphase lag
Deletion Nondysjuntion
insertion Translocation Ring chromosome inrersion Duplication

192
proliferation )
( Apotosis ) (

Apoptosis proliferation Embryo gensis

193
 ( )

Antenatal Care

prenatal

( Consanguinity )

194
 ( )

TORCH

Screening

Rubella
Hepatitis B

Neural tube Folic acid

defect

x ray

) ( )
x.Linked

Prenatal

195
 sexual transmitted

Disease

ovum transplantation Insemination

Coenzymes
( Vit B 6)

G aseD P ( Avoiding drugs )

osteogenis imperfect

Gene
Familial hupercholesterolemia therapy
gene theraps adenosindeaminase deficiency

neonatal metabolic screening ,Carrferscrrntoin

196
 micronutrient supplementation

disability
ovum Transplantation Insemination

pattern of inheritance

Target organ

Mosaic

x Linked

DNA
MRI,x,ray ) Analysis
TORCH screening Craniofacial CNS
Herpes simplex
197
 ) Hipatitis HIV syphkilis
(

Prenatal
amniocentesis Chorionic vollous MRI x, ray
Fetosocopy sampling
still birth Miscarriage ( )
( Mental retardation )
( Handicaps)

Infertility , jaundice , acidosis , Malabosrption , epilepsy

Replacement therapy
Goitrogenous cretinism
Gaucher disease factor VIII \ Lx
Recombinant glucocerbrosidase

Galactosimia
Allopurinol Gunt Lactose free

Wilson
Desferoxamin thalasemai Penicillaman

Criglernajar Phenobarbital Induction

syndrome type II

198
) differentiation
( Celluar migration

(D, N ,A ) ( D,N A )

) Garrier
(

Sepsis
Hepatitis

Klinefelter
A,S,D ( V S D )

syndrome short limb dwarfism agenesis renal anencephaly

Inborn error of )
encephalopathy neonal sepsis ( metabolism
Hypoxic ischemic

199
 Minor variant
Mar fan syndrome Major ,Malforation, Pulydactyly
aniridia ( Wilmstumur) WAGR syndrome Neual tube defect
retardation , Wolf hirsh horn sundrom,

200
 ( References )

1 Behrman R E/ Kliegman . R M & Arvin . A.M Nelson

Textbook of Pediatric 19 th Edition . W .B saunders Copany
U. S.A 2010 .Ch .67.83 .97 pp 367- 390,542,617,622
2 Cloheter , j / Eichen wald . E/ Srart A, Manual of neonatal care
5 th edition lippincott Willian & wilkins company 2004 .Ch 8 pp 95-100.
3 Dwarkin company NMS , pediatric 4 th edition Lippincott willian & wilkins
company 2000 Ch ,8 pp 219 -259
4 Etzel . R.A/Balk . S.J pediatric environmental health .2 nd editon
American academy of pediatric 2003 Ch .29 pp 29 443 -454
5 Ghai . O. P/ Gupta p/ paul . v .k Ghai Essential pediatric editon
Meenakshi . printers Delhi 2004 , Ch22 pp. 589- 606 -619
6 Gupte .Suraj the Short textbook of pediatric 10 th (silver jubelle) edition
JAYPEE brothere medical publishers .S P L .T.D New Delhi 2004 ,
Ch . 30 Pp 572-858
7 Hay . w.w /et al LANGH . Current pediatric Diagnosis & treatment 17 th
edition Me Graw hill company USA 2005
Ch. 33 pp 764 , 1039-1079
8 Hull . D / Johnston . D .I . Essenatial pediatric 4 th edition Churchill .
Livngston 1998 .Ch .2 pp.12-30
9 Milner .Anthony , D / Hull David hospital pediatric 3rd edition Churchill
livngston 2004 ,ch 6. Pp 77-93
10 Moser Hugo etall .x linked adrenoleukodysrtohy
2004 W.W.W aldfoundation , org
11 partha A.S /Menon . PSN/Nair MKC .IAP textbook of pediatric
4th edition JAYPEE brothers Medical publishers New Delhi India 2008 ,Ch
17 .1-17.2 pp 614-666
201
12 Sing mehraban care of the newborn 6 th edition sagar printer &
publisher company New Delhi August 2008 . ch 4 ,13 pp 62 .117,157
13 Strickberger. Genetic 3rd Edition 2012 PHI New Delhi
14 W http:// en. Wikipedia.org/wiki/Mutation
15 W http:// en. Wikipedia.org/wiki/ Mendelian inheritance

202
 ( )

( )

.
. -
Biopharmatic medicine ( ) Probiotic -
.
Tinidazole Nitazoxanide -
.
WHZ-Score MUAC -
.
Diohedral Smectate -

203
 .
Ondansetron Acute gastroenteritis -
Metochloroparamid

(Lactose (Severe malnutrition) -

Intolerance)

204
 Publishing Medical Textbooks

Honorable lecturers and dear students,

The lack of quality textbooks in the universities of Afghanistan is a serious
issue, which is repeatedly challenging the students and teachers alike. To
tackle this issue we have initiated the process of providing textbooks to the
students of medicine. In the past two years we have successfully published
and delivered copies of 116 different books to the medical colleges across the
country.
The Afghan National Higher Education Strategy (2010-1014) states:
“Funds will be made ensured to encourage the writing and publication of text
books in Dari and Pashto, especially in priority areas, to improve the quality of
teaching and learning and give students access to state-of- the-art
information. In the meantime, translation of English language textbooks and
journals into Dari and Pashto is a major challenge for curriculum reform.
Without this, it would not be possible for university students and faculty to
acquire updated and accurate knowledge”
The medical colleges’ students and lecturers in Afghanistan are facing
multiple challenges. The out-dated method of lecture and no accessibility to
update and new teaching materials are main problems. The students use low
quality and cheap study materials (copied notes & papers), hence the Afghan
students are deprived of modern knowledge and developments in their
respective subjects. It is vital to compose and print the books that have been
written by lecturers. Taking the situation of the country into consideration, we
need desperately capable and professional medical experts. Those, who can
contribute in improving standard of medical education and Public Health
throughout Afghanistan, thus enough attention, should be given to the medical
colleges.
For this reason, we have published 116 different medical textbooks from
Nangarhar, Khost, Kandahar, Herat, Balkh and Kapisa medical colleges and
Kabul Medical University. Currently we are working to publish 20 more
medical textbooks for Nangarhar Medical Faculty. It is to be mentioned that all

I
these books have been distributed among the medical colleges of the country
free of cost.
All published medical textbooks can be downloadable from
www.ecampus-afghanistan.org
The book in your hand is a sample of printed textbook. We would like to
continue this project and to end the method of manual notes and papers.
Based on the request of Higher Education Institutions, there is need to publish
about 100 different textbooks each year.

As requested by the Ministry of Higher Education, the Afghan universities,

lecturers & students they want to extend this project to the non-medical
subjects e.g. Science, Engineering, Agriculture, Economics, Literature and
Social Science. It is reminded that we publish textbooks for different colleges
of the country who are in need.

I would like to ask all the lecturers to write new textbooks, translate or
revise their lecture notes or written books and share them with us to be
published. We assure them quality composition, printing and free of
cost distribution to the medical colleges.

I would like the students to encourage and assist their lecturers in this
regard. We welcome any recommendations and suggestions for
improvement.

It is mentionable that the authors and publishers tried to prepare the books
according to the international standards but if there is any problem in the
book, we kindly request the readers to send their comments to us or authors
to in order to be corrected in the future.

We are very thankful to German Aid for Afghan Children its director Dr. Eroes,
who provided funds for 20 medical textbooks in previous two years to be used
by the students of Nangarhar and other medical colleges of the country.

II
I am especially grateful to GIZ (German Society for International Cooperation)
and CIM (Centre for International Migration & Development) for providing
working opportunities for me during the past three years in Afghanistan.

In Afghanistan, I would like cordially to thank His Excellency the Minister of

Higher Education, Prof. Dr. Obaidullah Obaid, Academic Deputy Minister Prof.
Mohammad Osman Babury and Deputy Minister for Administrative &
Financial Affairs Prof. Dr. Gul Hassan Walizai as well as the chancellor of
Nangarhar University Dr. Mohammad Saber for their cooperation and support
for this project. I am also thankful to all those lecturers that encouraged us
and gave all these books to be published. At the end I appreciate the efforts of
my colleagues in the office for publishing books.

Dr Yahya Wardak
CIM-Expert at the Ministry of Higher Education, March, 2013
Karte 4, Kabul, Afghanistan
Office: 0756014640
Email: textbooks@afghanic.org
wardak@afghanic.org

III
Message from the Ministry

of Higher Education

In the history, book has played a very important role in gaining knowledge
and science and it is the fundamental unit of educational curriculum which can
also play an effective role in improving the quality of Higher Education.
Therefore, keeping in mind the needs of the society and based on educational
standards, new learning materials and textbooks should be published for the
students.

I appreciate the efforts of the lecturers of Higher Education Institutions and

I am very thankful to them who have worked for many years and have written
or translated textbooks.

I also warmly welcome more lecturers to prepare textbooks in their

respective fields. So, that they should be published and distributed among the
students to take full advantage of them.

The Ministry of Higher Education has the responsibility to make available

new and updated learning materials in order to better educate our students.

At the end, I am very grateful to German Committee for Afghan Children

and all those institutions and people who have provided opportunities for
publishing medical textbooks.

I am hopeful that this project should be continued and publish textbooks in

other subjects too.

Sincerely,
Prof. Dr. Obaidullah Obaid
Minister of Higher Education
Kabul, 2013
Book Name Genetics and Dysmorpohology
Author Dr. Masihullah Masih
Publisher Nangarhar Medical Faculty
Website www.nu.edu.af
No of Copies 1000
Published 2013
Download www.ecampus-afghanistan.org
Printed at Afghanistan Times Printing Press

This Publication was financed by German Aid for Afghan Children, a private
initiative of the Eroes family in Germany.
Administrative and Technical support by Afghanic organization.
The contents and textual structure of this book have been developed by concerning
author and relevant faculty and being responsible for it. Funding and supporting
agencies are not holding any responsibilities.

If you want to publish your textbooks please contact us:

Dr. Yahya Wardak, Ministry of Higher Education, Kabul
Office 0756014640
Email textbooks@afghanic.org

All rights reserved with the author.

Printed in Afghanistan 2013

ISBN 978 – 987 – 33 – 2515 – 1