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Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

✍ Scribed by Nowaczyk, Malgorzata J.M.; Ramsay, Jennifer A.; Mohide, Patrick; Tomkins, Darrell J.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 15 KB
Volume: 77
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980526)77:4<306::aid-ajmg11>3.0.co;2-m

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✦ Synopsis

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) confirmed that the ring chromosome was X-derived. This report expands the phenotypic spectrum of mosaic monosomy X and small ring X chromosomes. Am.

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