PMID: 9160392Apr 1, 1997Paper

Prenatal diagnosis of the 22q11 deletion syndrome

Prenatal Diagnosis
A DavidsonH H Punnett

Abstract

A 27 weeks gestation fetus, evaluated because of polyhydramnios, was found by echocardiography to have an interrupted aortic arch type B. Because of the known association between this malformation and DiGeorge syndrome, an amniocentesis was performed. Fluorescence in situ hybridization revealed a 22q11 deletion. This is, to our knowledge, the first report of prenatal detection of a fetus with 22q11 deletion in the absence of a family history.

Citations

Mar 21, 1998·Journal of Medical Genetics·M F PortnoïJ L Taillemite
Jun 23, 2015·Journal de gynécologie, obstétrique et biologie de la reproduction·A LamourouxP Mares

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

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