DiGeorge Syndrome

DiGeorge syndrome, also termed as 22q11.2 deletion syndrome, is caused by the deletion of 30 to 40 genes in chromosome 22.

This is caused by spontaneous mutation during early prenatal stage or heritability. The symptoms vary but the most common ones include congenital heart diseases, recurrent infections, developmental delay, cleft palate, hearing loss, cyanosis, kidney problems, and autoimmune disorders. With sufficient multidisciplinary treatment, normal life expectancy may be achieved. This was named after Angelo DiGeorge, an American physician who first described it in 1968. The involved chromosome and range of deleted genes were verified in 1981.

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