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Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome

5 Aug 2005

Abstract excerpt

Cornelia de Lange (CdLS), also known as Brachmann de Lange, is a complex disorder that includes characteristic facial features, hirsutism, limb abnormalities, diaphragmatic hernia, pre- and postnatal growth retardation, and mental retardation. It is estimated to occur in 1 in 10,000 live births [Opitz, 1985]. CdLS is usually diagnosed by postnatal clinical findings; however, prenatal diagnosis has been made by...

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PMID: 16086407
DOI: 10.1002/ajmg.a.30856

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