DiGeorge Syndrome

A Report By: Ace Ashley B. Baron

Description

DiGeorge syndrome (22q11.2 deletion

syndrome), a disorder caused by a defect in
chromosome 22, results in the poor
development of several body systems.

Medical problems commonly associated

with DiGeorge syndrome include heart
defects, delayed physical and mental
growth, poor immune system function, a
cleft palate, complications related to low
levels of calcium in the blood and
behavioral disorders.

Etiology

The occurrence of 22q11.2DS is sporadic in

more than 90% of cases, being the result of
de novo (noninherited) deletions. About
10% have inherited the deletion from a
parent as an autosomal dominant condition.
Sibling involvement has been observed only
if a chromosome 22 deletion has been
found in a parent.

The hereditary cases show no predilection

in inheritance from the mother or father,
and an affected person has a 50% chance of
transmitting the condition to his or her
child.

Associated Age Group

The disorder usually affects newborns of

either sex.

The End

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