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Congenital perineal hernia in a fetus with X monosomy

โœ Scribed by Sebastiano Bianca; Giovanni Bartoloni; Barbara Barrano; Gustavo Boemi; Chiara Barone; Antonella Cataliotti; Lara Indaco; Giuseppe Ettore


Book ID
111300995
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
68 KB
Volume
49
Category
Article
ISSN
0914-3505

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Multiple congenital anomalies in a fetus
โœ Nowaczyk, Malgorzata J.M.; Ramsay, Jennifer A.; Mohide, Patrick; Tomkins, Darrel ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 15 KB ๐Ÿ‘ 1 views

Ring X chromosomes that do not undergo inactivation may cause malformations and mental retardation. We report on a fetus with anencephaly, total dorsal rachischisis, and diaphragmatic hernia that was found to have a mosaic 45,X/46,X,r(X)(p11.22q12) karyotype. Fluorescent in situ hybridization (FISH)