Genetic Disorders

Some Common
Chromosomal
Disorders

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 CRI-DU-CHAT
✢ Cri-du-chat Babies with the "cry
of the cat" syndrome have a cry
which sounds like that of a cat in
distress because the infant's
larynx is improperly developed.
The cause of this condition is a
deletion of about half of the
short arm of chromosome
number 5..
✢ Karyotype: 46XX or 46XY with
one chromosome #5 upper arm 3
 WILLIAM SYNDROME
✢ The result from the loss of a
segment in chromosome 7.
✢ They have large ears and facial
features that make them look
like elves.
✢ Karyotype: 46XX or 46XY with
one chromosome #7 segment
loss

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 DOWN SYNDROME
✢ Trisomy 21, one of the most
common causes of mental
retardation is due to an extra
chromosome 21. This results in a
number of characteristic features,
such as short stature, broad hands,
stubby fingers and toes, a wide
rounded face, a large protruding
tongue that makes speech difficult
and mental disabilities.
✢ Karyotype: 47XX or 47XY with 3
5
 EDWARD’S SYNDROME
✢ This syndrome, trisomy 18 (an extra
chromosome 18), produces severe
mental disabilities and a highly
characteristic pattern of malformations
such as elongated skull, a very narrow
pelvis, rocker bottom feet, malformed
heart and a grasping of the two central
fingers by the thumb and little finger.
In addition, the ears are often low set
and the mouth and teeth are small.
✢ Karyotype: 47XX or 47XY with 3 of
the chromosome #18 6
 PATAU SYNDROME
✢ This syndrome (trisomy 13 -
extra chromosome 13) causes
severely abnormal cerebral
functions and virtually leads to
death in early infancy. The baby
has very pronounced clefts of the
lip and palate, broad nose,
polydactyly (extra fingers and
toes), small cranium and
nonfunctional eyes.
✢ Karyotype: 47XX or 47XY with
7
3 of the chromosome 13
 KLINEFELTER SYNDROME

✢ Another genetic disorder.

✢ A male who has this syndrome
has two or more X-chromosomes
in addition to their Y-
chromosomes
✢ They lack facial hair and their
testes including prostate gland
are underdeveloped.
✢ Karyotype: 46XXY
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 TURNER SYNDROME
✢ Characterized by having 45
chromosomes.
✢ About 96-98% do not survive
birth, have no menstruation, have
narrow hips, have
underdeveloped breast and have
a broad shoulders and neck.
✢ Karyotype: 46XXY

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 Some Common
RecessiveDisorders

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 SICKLE-CELL ANEMIA
✢ It is a genetic blood disorder
✢ A person who inherits two
defective genes will have
abnormally shaped red blood
cells and may die at an early
stage.

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 TAY-SACHS
✢ It is characterized by the lack of an
important chemical in the brain.
✢ Infants who have this kind of
disease usually die within the first
five years.
✢ It's caused by the absence of an
enzyme that helps break down fatty
substances. These fatty substances,
called gangliosides, build up to
toxic levels in the child's brain and
affect the function of the nerve
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cells.
 PHENYLKETONURIA (PKU)
✢ It is a rare genetic disorder than can
cause serious mental retardation in
infants.
✢ An infant who has this kind of
disorder cannot break down
phenylalanine that builds up in the
body, which then affects the brain.

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 CYSTIC FIBORSIS
✢ A disease in which some
glands produce too much
mucus that is clogs and
damages the lungs.
✢ This disease is fatal among
children because it causes
difficulty in breathing.

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