Undetected sex chromosome aneuploidy by chromosomal microarray.

Abstract

We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting.

• Authors: Keren Markus-Bustani, Yuval Yaron, Myriam Goldstein, Avi Orr-Urtreger, Shay Ben-Shachar
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 32 Issue 11 Pg. 1117-8 (Nov 2012) ISSN: 1097-0223 [Electronic] England
• PMID: 23034780 (Publication Type: Case Reports, Letter)
• Copyright: © 2012 John Wiley & Sons, Ltd.

Topics

• Adult
• Aneuploidy
• Chromosomes, Human, X (genetics)
• Comparative Genomic Hybridization (methods)
• Diagnostic Errors
• Female
• Gene Dosage
• Humans
• In Situ Hybridization, Fluorescence
• Mosaicism
• Pregnancy
• Prenatal Diagnosis (methods)
• Sex Chromosome Aberrations
• Sex Chromosome Disorders of Sex Development (diagnosis, genetics)
• Trisomy (diagnosis, genetics)
• Turner Syndrome (diagnosis, genetics)