Chromosomal Anomalies

CHROMOSOMAL
ANOMALIES
AUTOSOMAL ANOMALIES
Down’s syndrome,
Edward’s syndrome,
Cri du chat syndrome
DOWN SYNDROME
• Down syndrome (sometimes called
Down's syndrome) is a condition in
which a child is born with an extra
copy of their 21st chromosome —
hence its other name, trisomy 21.
• T h i s ca u s e s p hys i ca l a n d m e nta l
developmental delays and disabilities.
• It is usually associated with
physical growth delays, mild to
moderate intellectual disability, and
characteristic facial features.
• There is no cure for Down syndrome.
How Down syndrome occurs?
• About 95 percent of the time,
D o w n sy n d ro m e i s c a u s e d b y
trisomy 21 - the person has three
copies of chromosome 21, instead
of the usual two copies, in all cells.
• This is caused by abnormal cell

division during the development of
the sperm cell or the egg cell.
• This is called Trisomy 21.

Types of Down syndrome - Mosaic Down
syndrome .
• In some cases, a person has

only some cells with an extra
copy of chromosome 21.
• This is called Mosaic Down
syndrome .
• It is a rare form of Down
syndrome, which is caused by
abnormal cell division after
fertilization.
Types of Down syndrome - Translocation
Down syndrome.
• Down syndrome can also occur
when a portion of chromosome 21
becomes attached (translocated)
onto another chromosome, before
or at conception.
• This is called Translocation Down
syndrome.
• These children have the usual two
copies of chromosome 21, but they
also have additional genetic
material from chromosome 21
attached to another chromosome.
Inheritance
• Down's Syndrome is autosomal recessive.
• This means that the condition is genetic and passed down by the
mother and/or the father but the condition is not shown in the
parents.
• An autosomal recessive disorder requires two copies of the abnormal
gene for the disease or trait to develop.
Down syndrome and daily life
• In the 1940s, a child with Down syndrome had a life expectancy of 12
years.
• These days, their life expectancy is 60 years and a baby born with
Down syndrome could live into their 80s — in line with the general
population.
• Kids with Down syndrome usually have trouble learning and are
slower to learn how to talk and take care of themselves.
• But despite their challenges, kids with Down syndrome can go to
regular schools, make friends, enjoy life, and get jobs when they're
older.
Edwards' syndrome/
Trisomy 18
EDWARDS SYNDROME
• Edwards' syndrome, also known as trisomy

18, is a rare but serious condition.
• Edwards syndrome is a chromosomal
abnormality characterized by the presence
of an extra copy of genetic material on the
1 8 t h c h ro m o s o m e , e i t h e r i n w h o l e
(trisomy 18) or in part (such as due to
translocations).
• A small number (about 13 in 100) babies
born alive with Edwards' syndrome will
live past their 1st birthday.
Types of Edwards’ Syndrome- Full
Edwards' syndrome
• Most babies with Edwards'

syndrome have an extra
chromosome 18 present in
all cells. This is called full
Edwards' syndrome.
• The effects of full Edward's

syndrome are often more
severe. Sadly, most babies
with this form will die
before they are born.
Types of Edwards’ Syndrome- Mosaic
Edwards' syndrome
• A small number of babies with Edwards'
syndrome (about 1 in 20) have an extra
chromosome 18 in just some cells. This is
called mosaic Edwards' syndrome (or
sometimes mosaic trisomy 18).
• This can lead to milder effects of the
condition, depending on the number and
type of cells that have the extra
chromosome.
• Most babies with this type of Edward's
syndrome who are born alive will live for at
l e a s t a y e a r, a n d t h e y m a y l i v e t o
adulthood.
Types of Edwards’ Syndrome- Partial
Edwards' syndrome
• A very small number of babies with

Edwards' syndrome (about 1 in 100)
have only a section of the extra
chromosome 18 in their cells, rather
than a whole extra chromosome 18.
T h i s i s c a l l e d p a rt i a l E d w a r d s '
syndrome (or sometimes partial
trisomy 18).
• How partial Edwards' syndrome
affects a baby depends on which part
of chromosome 18 is present in their
cells.
• Cri-du-chat (cat's cry)
syndrome, also known as 5p-
(5p minus) syndrome, is a
chromosomal co n d i t i o n t h a t
results when a piece of
chromosome 5 is missing.
• It was first described by Jérôme
Lejeune in 1963.
• The cause of this rare chromosomal deletion is unknown.
• Most cases of cri-du-chat syndrome are not inherited. The
deletion occurs most often as a random event during the
formation of reproductive cells (eggs or sperm) or in early
fetal development.
• Affected people typically have no history of the disorder in
their family
SEX CHROMOSOMAL ANOMALIES
Klinefelter’s syndrome and

Turner’s syndrome
SEX CHROMOSOME ANOMALIES
• Sex chromosome anomalies belong to a group of genetic conditions
that are caused or affected by the loss, damage or addition of one or
both sex chromosomes (also called gonosomes).
• Sex chromosome abnormalities occur when a person is missing a

whole sex chromosome (called monosomy) or has an extra sex
chromosome (one extra is trisomy).
• Abnormalities can also occur when a person is missing part of a sex

chromosome (called a deletion).
Klinefelter Syndrome
• Klinefelter syndrome (KS), also
known as 47,XXY is a syndrome
where a male has an additional
copy of the X chromosome.
• The primary features are infertility

and small poorly functioning
testicles.
Causes of Klinefelter Syndrome
Klinefelter syndrome can be caused by:
1. O n e e x t r a c o p y o f t h e X
chromosome in each cell (XXY), the
most common cause.
2. An extra X chromosome in some of
the cells (mosaic Klinefelter
syndrome), with fewer symptoms.
3. More than one extra copy of the X
chromosome, which is rare and
results in a severe form
Extra copies of genes on the X
chromosome can interfere with male
sexual development and fertility.
Klinefelter Syndrome
• Klinefelter syndrome isn't passed down through families like
some genetic diseases.
• Instead, it happens randomly from an error in cell division when
a parent's reproductive cells are being formed.
• Women who get pregnant after age 35 are slightly more likely to
have a boy with this syndrome than younger women.
• Can a girl have Klinefelter's syndrome?
Klinefelter syndrome (47,XXY) results from an additional X chromosome

on an XY background; therefore, this condition affects only males.
TURNER’S SYNDROME
Turner syndrome
• A chromosomal disorder in which a
female is born with only one X
chromosome.
• Turner syndrome results when one of
the X chromosomes (sex
chromosomes) is missing or partially
missing.
• Turner syndrome can cause a variety of
medical and developmental problems,
including short height, failure of the
ovaries to develop and heart defects.
X CHROMOSOME MONOSOMY
• During the process in which oocytes (eggs) or sperm are formed, one
of the sex chromosomes is sometimes "lost".
• An embryo receiving only a Y-chromosome can not survive, but an

embryo receiving only a X- chromosome may survive and develop as a
female with Turner syndrome.
SYMPTOMS OF
TURNER SYNDROME
SYMPTOMS OF TURNER
SYNDROME
• heart defects
• swollen hands and feet (in
infants) • infertility
• short stature • problems with sexual
development
• a high palate
• hearing loss
• low-set ears
• high blood pressure
• obesity
• dry eyes
• droopy eyelids
• frequent ear infections
• flat feet
• scoliosis (spinal curvature)
WHETHER TURNOR’S SYNDROME GETS
INHERITED?
• Most cases of Turner syndrome are not inherited .
• Most commonly, Turner syndrome occurs due to a random event
during the formation of an egg or sperm cell in a parent (prior to
conception).
• Most women with Turner syndrome cannot get pregnant naturally.
• In one study, as many as 40% of women with Turner syndrome got
pregnant using donated eggs.

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CHROMOSOMAL

• This is caused by abnormal cell

• This is called Trisomy 21.

• In some cases, a person has

• Edwards' syndrome, also known as trisomy

• Most babies with Edwards'

• The effects of full Edward's

• A very small number of babies with

Klinefelter’s syndrome and

• Sex chromosome abnormalities occur when a person is missing a

• Abnormalities can also occur when a person is missing part of a sex

• The primary features are infertility

Klinefelter syndrome (47,XXY) results from an additional X chromosome

• An embryo receiving only a Y-chromosome can not survive, but an

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