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Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome

✍ Scribed by Florence Bretelle; Laura Beyer; Marie Christine Pellissier; Chantal Missirian; Sabine Sigaudy; Marc Gamerre; Claude D’Ercole; Nicole Philip


Book ID
116433292
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
160 KB
Volume
53
Category
Article
ISSN
1769-7212

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PRENATAL DIAGNOSIS OF THE 22q11 DELETION
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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 2