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Inherited 18q23 duplication in a fetus with multiple congenital anomalies

✍ Scribed by Bertrand Isidor; Norbert Winer; Madeleine Joubert; Pierre Boisseau; Cedric Le Caignec; Michelle Bocéno; Catherine Fallet; Albert David; Jean Marie Rival

Book ID: 116433081
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 620 KB
Volume: 51
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2007.12.010

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## Abstract We report on an 18‐week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo‐encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single

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