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著者: Pagon,Adam,Ardinger,Bird,Dolan,Fong,Smith,Stephens
Abstract/Text
22q11.2 deletion syndrome is a contiguous gene deletion syndrome inherited in an autosomal dominant manner. About 93% of probands have a de novo deletion of 22q11.2 and 7% have inherited the 22q11.2 deletion from a parent. Offspring of affected individuals have a 50% chance of inheriting the 22q11.2 deletion. Prenatal testing for pregnancies at increased risk based on family history is possible if the diagnosis has been confirmed in an affected family member and for pregnancies not known to be at increased risk in which congenital heart disease and/or other associated abnormalities (e.g., cleft palate, polydactyly, diaphragmatic hernia, renal anomalies, and polyhydramnios) have been detected by ultrasound examination.
PMID 20301696
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