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

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)...

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Veröffentlicht in:	American journal of medical genetics 1998-05, Vol.77 (4), p.306-309
Hauptverfasser:	Nowaczyk, Malgorzata J.M., Ramsay, Jennifer A., Mohide, Patrick, Tomkins, Darrell J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - embryology Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology anencephaly Biological and medical sciences Chromosome Aberrations Chromosome Disorders Complex syndromes diaphragmatic hernia Fetus - abnormalities Humans Medical genetics Medical sciences Mosaicism neural tube defect rachischisis Ring Chromosomes ring X Ullrich-Turner syndrome X Chromosome
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Zusammenfassung:	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. J. Med. Genet. 77:306–309, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19980526)77:4<306::AID-AJMG11>3.0.CO;2-M