Journal article
Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism
Abstract
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.
Authors
Nowaczyk MJM; Ramsay JA; Mohide P; Tomkins DJ
Journal
American Journal of Medical Genetics, Vol. 77, No. 4, pp. 306–309
Publisher
Wiley
Publication Date
May 26, 1998
DOI
10.1002/(sici)1096-8628(19980526)77:4<306::aid-ajmg11>3.0.co;2-m
ISSN
0148-7299