Cornelia de Lange Syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

Jan Weichert*, Andreas Schröer, Daniel Alexander Beyer, Gabriele Gillessen-Kaesbach, Irina Stefanova

*Korrespondierende/r Autor/-in für diese Arbeit
4 Zitate (Scopus)

Abstract

Cornelia de Lange syndrome (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by facial dysmorphism, upper limb deformities, and mental retardation. We report on two subsequent pregnancies with antenatally diagnosed CdLS at 23 and 14 gestational weeks, respectively, of an otherwise healthy gravida. Molecular genetic testing revealed a rare case of gonadal mosaicism of a nonsense NIPBL gene mutation.

OriginalspracheEnglisch
ZeitschriftJournal of Maternal-Fetal and Neonatal Medicine
Jahrgang24
Ausgabenummer7
Seiten (von - bis)978-982
Seitenumfang5
ISSN1476-7058
DOIs
PublikationsstatusVeröffentlicht - 01.07.2011

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