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

M J Nowaczyk; J A Ramsay; P Mohide; D J Tomkins

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

Am J Med Genet. 1998 May 26;77(4):306-9.

Authors

M J Nowaczyk¹, J A Ramsay, P Mohide, D J Tomkins

Affiliation

¹ Program in Human Genetics, Hamilton Health Sciences Corporation and McMaster University, Ontario, Canada.

PMID: 9600741

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / embryology
Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Chromosome Aberrations*
Chromosome Disorders*
Fetus / abnormalities*
Humans
Mosaicism*
Ring Chromosomes
X Chromosome*