Chromosomal Disorders Cri-Du-Chat Syndrome

What are chromosomes?  1 in 216,000 births

 46 chromosomes
Humans have 23 pairs of chromosomes, with one
 #5 Deletion of lower arm
chromosome from each parent. The chromosomes are coiled
up DNA. Under normal conditions all the chromosomes are Symptoms:
inherited intact.
Moon-shaped face, heart disease, mentally retarded,
  Malformed larynx and Normal lifespan

This is a normal karyotype of human chromosomes. A Aniridia-Wilms Tumor Syndrome

karyotype is a picture of chromosomes lined up to look at and
compare.  1 in 50,000,000 births
 46 chromosomes XY or XX
Chromosomal Disorders  #11 Deletion of upper arm
Chromosomal deletion: when cells go through meiosis, Symptoms:
portions of the chromosome are lost.
Mentally retarded, Growth retarded, Blindness, Tumors on
Chromosomal inversion: when cells go through meiosis, parts kidneys and short lifespan
of the chromosome are flipped.
Thirteen Q Deletion Syndrome
Chromosomal translocation: when cells go through meiosis,
parts of the chromosomes stick together and switch.  in 500,000 births
 46 chromosomes XY or XX
Chromosomal non-disjunction: when cells go through  #13 Deletion of lower arm
meiosis the chromosomes don’t separate correctly and either
too many or not enough are passed on. Symptoms

Single Chromosome Disorders Mentally retarded, Deformed face, No thumbs, heart disease
and Short lifespan
1. Deletion - Genetic material is missing
2. Duplication - Genetic material is present twice Prader-Willi Syndrome
3. Inversion- Genetic material is “flipped”
 1 in 5,000,000 births
 46 chromosomes XY=97% XX=3%
 #15 Deletion of lower arm
Two Chromosome Disorders (Both types are called
“translocation”) Symptoms

Small bird-like head, mentally retarded, Respiratory

problems, Obesity and short lifespan
Insertion - Genetic material is added from another
chromosome Eighteen Q Deletion Syndrome

Translocation - Material is swapped with another  1 in 10,000,000 births

chromosome  46 chromosomes XY or XX
 #18 Deletion of lower arm
Turners Syndrome
Symptoms
 1 in 5,000 births
 45 chromosomes X only Mentally retarded, Heart disease, Abnormal hands and feet,
 #23 Monosomy Large eyes, Large ears and normal lifespan
 Nondisjunction Burkitt Lymphoma
 96-98% do not survive to birth
 No menstruation  Translocation of the Myc gene on chromosome 8
 No breast development  Normal Myc genes control cell growth and division
 Narrow hips  Translocated Myc genes don’t function properly
 Broad shoulders and neck  Leads to cancer of the lymph nodes
Down Syndrome  46 chromosomes XY or XX
 #4 Inversion
 1 in 31,000 births
 46 chromosomes XY=97 XX=3% Symptoms
 #14/21 Translocation
Cleft palate, Club feet, Testes don’t descend and short
 Short, broad hands
lifespan
 Stubby fingers
 Rough skin Jacob’s Syndrome
 Impotency in males
 Mentally retarded  1 in 1,800 births
 Small round face  47 chromosomes XYY only
 Protruding tongue  #23 Trisomy
 Short lifespan  Nondisjunction

Down Syndrome: Trisomy Symptoms

 1 in 1,250 births Normal physically, Normal mentally, Increase in testosterone,

more aggressive and Normal lifespan
 47 chromosomes XY or XX
 #21 Trisomy Triple X Syndrome
 Nondisjunction
 Normal physically
Klinefelter Syndrome Sometimes taller
 Normal mentally
 1 in 1,100 births
Inc. risk of retardation
 47 chromosomes XXY only
 Fertile
 #23 Trisomy
 Nondisjunction Other Types of Inherited Genetic Disorder
Symptoms Tay-Sachs - Multiple kinds of mutation on Chromosome 15
Scarce beard, longer fingers and arms, Sterile, Delicate skin,  incidence rate of infantile Tay-Sachs=
Low mental ability and Normal lifespan  Ashkenazi Jewish groups, French Canadian & Cajun:
1 in 30 are carriers
Cat-Eye Syndrome
 other groups: 1 in 300 are carriers
 1 in 1,000,000 births  accumulation of lipids on brain
 46 chromosomes XY or XX  brain malfunction; death by age 5
 #22 Deletion of bottom arm
Sex-linked: X chromosome
Symptoms
 Duchenne Muscular Dystrophy
Fused fingers and toes, mentally retarded, small jaw, Heart  1 boy in every 3,000
problems and Normal lifespan  progressive weakening of muscles and loss of
coordination
Patau’s Trisomy Syndrome
 more common in males
 1 in 14,000 births
 47 chromosomes XY or XX
 #13 Trisomy  Cystic Fibrosis
 Nondisjunction  1/31 is carrier in U.S.
 Single gene mutation
Symptoms
 mucus in lungs, pancreas, digestive tract and other
Small head, Small or missing eyes, Heart defects, Extra organs
fingers, Abnormal genitalia, mentally retarded, Cleft palate  most common lethal genetic disease in U.S
and most die a few weeks after birth  heterozygote may be resistant to typhoid fever

Four-Ring Syndrome Autosomal Dominant

 1 in 10,000,000 births  Huntington’s

  incidence: 1/10,000 in U.S.  This karyotype demonstrates trisomy 18
 nervous system degenerates  Shorthand: (47, XY, +18).
 late onset  If the genotype is XY, what is the gender of this
 may not show symptoms until past reproductive age individual?
- Male
Chromosomal Abnormalities  Incidence is only 1 in 8000 live births
What is a chromosomal mutation?  It is uncommon for fetuses with this condition to
survive
 A mutation that involves the
 Addition What can a survivor expect?
 Deletion  30% of these children die within the first month and
 Translocation only 10% survive one year.
 Non-disjunction  There is severe mental retardation.
Of a piece or a whole chromosome.  Other characteristics:
- elongated skull, a very narrow pelvis, rocker
MUTATIONS bottom feet.
- the ears are often low set, and the mouth
What type of mutation involves the presence of extra
and teeth are small.
chromosomes or the deletion of chromosomes?
- nearly all babies born with this condition die
Nondisjunction!!!!!
in early infancy.
 Trisomy: any extra chromosome
Other Trisomies of Interest:
 In trisomy cases, you end up with 47 chromosomes
instead of 46  Here is an example of trisomy 16.
 Klinefelter’s syndrome has the genotype XXY  This is the most common chromosomal abnormality,
but the fetuses NEVER survive past the first
An Example of Trisomy
trimester.
 Down’s Syndrome  Many first trimester fetuses are lost in this fashion
-A.k.a- trisomy 21 (many are "silent" abortions).
 Shorthand:
Trisomy 13: Patau Syndrome
- 47, XY or XX, +21
- XY is male  Shorthand: (47, XX, +13).
- XX is female  Occurrence:
 Survival rate is very high for this non-disjunction! - Only 1 in 15,000 live births. (Most aborted
naturally)
What is It
 Survival:
 The non-disjunction rate increases with Mom’s age - Forty five percent die within the first
 Trisomy 21 is one of the most common causes of month
mental retardation (IQ between 25-74). - 90% by six months
- An average person has an IQ between 90-110. - Less than 5% reach 3 years
- This results in a few characteristic features:
- Short stature, broad hands, stubby fingers and toes,
a wide rounded face, a large protruding tongue that
makes speech difficult. Individuals with this
syndrome have a high incidence of respiratory Why is death so frequent?
infections, heart defects, and leukemia. There are severely abnormal cerebral functions and virtually
 Incidence: always leads to death in early infancy. This baby has: very
- 1/750 live births. pronounced clefts of the lip and palate, broad nose, small
- Mothers in their early twenties have a risk of cranium, polydactyl, deafness, and nonfunctional eyes. Heart
1/1,500. defects and severe mental retardation are also part of the
- Women over 35 have a risk factor of 1/70, which clinical picture.
jumps to 1/25 for women 45 and over.
Trisomy would feel left out without its partner!
Edward’s Syndrome
- Only have 1 X! This is Turner’s syndrome
 - Monosomy- having one fewer chromosome in each - Shorthand: 47, XYY
body cell. - The not so “supermale”
- Generally, if a chromosomal mutation occurs during
Klinefelter’s Syndrome
meiosis, one half of the gametes will have
monosomy and the other half will have trisomy  What type of mutation would cause a person to have
Turner’s Syndrome an extra X chromosome?
- NONDISJUNCTION!!!!
 Genotype: XO  Occurrence:
 It is NOT linked to maternal age. - about 1 in 500 males
 Women with Turner's syndrome can live relatively  Affected persons being relatively normal.
normal lives, though they are unable to bear - Abnormality includes tall stature, sterility, enlarged
children. breasts.

The phenotype of this female includes short stature, short The not so “superman”- Jacobs Syndrome
broad neck, and a broad chest. Intelligence does not seem to
be affected.  What type of mutation would cause an individual to
have one less chromosome than normal?
Translocations - NONDISJUCTION!!!
 Occurrence:
 A section of a chromosome is moved from one
- 1/1000 live male births.
chromosome to another!
 Apperence:
 The material is not lost, but inserted in a place where
- Men with this karyotype are tall and have low
it is non- functional
mental ability.
A Robertsonian translocation of chromosomes 13 and 14, an
end to end fusion of the two chromosomes

Cri du Chat

 Cry of the Cat individuals sound like cats crying.

Why? The larynx of the child is improperly
developed.

Fun Facts About “The Cat”

 The cause of this condition is a deletion of about

half of the short arm of chromosome 5.
 Cri-du-chat babies are severely mentally retarded,
round face, low set ears, heart disease, and have a
small cranium.
 Occurrence:
- 1/1,000,000 live births.
- Karyotype: - 46XX or 46 XY with chromosome #5
upper arm deletion.

Sex linked Abnormalities

 Moving onto sex-linked characteristics!

 This might wake you up.
 Nothing like talking about the “Supermale”!

The Sex-linked Trisomy

 Klinefelter’s Syndrome
- Shorthand: 47, XXY
- “Supermale”
 Jacobs Syndrome