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.