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.