XX‐agonadism in a fetus with multiple congenital anomalies

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 umbilical art...

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Veröffentlicht in:	American journal of medical genetics 2004-04, Vol.126A (1), p.104-105
Hauptverfasser:	Woo, Hennie H.N., Lo, Ivan F.M., Tse, H.Y., Lam, Stephen T.S., Tang, C.H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Adult agonadism Biological and medical sciences Chromosomes, Human, X - genetics Chromosomes, Human, X - pathology Female General aspects. Genetic counseling Gonadal Dysgenesis, 46,XX - genetics Gonadal Dysgenesis, 46,XX - pathology Humans Medical genetics Medical sciences multiple congenital anomalies Pregnancy Prenatal Diagnosis Sex Characteristics Syndrome
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Beschreibung
Zusammenfassung:	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 umbilical artery. This case is similar to the one previously described by Kennerknecht et al. in 1997 and may represent a unique syndrome. © 2003 Wiley‐Liss, Inc.
ISSN:	1552-4825 0148-7299 1552-4833 1096-8628
DOI:	10.1002/ajmg.a.20554