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Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism
M J Nowaczyk1, J A Ramsay, P Mohide
1Program in Human Genetics, Hamilton Health Sciences Corporation and McMaster University, Ontario, Canada.
American Journal of Medical Genetics
|May 26, 1998
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.