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Undetected sex chromosome aneuploidy by chromosomal microarray
Author(s) -
MarkusBustani Keren,
Yaron Yuval,
Goldstein Myriam,
OrrUrtreger Avi,
BenShachar Shay
Publication year - 2012
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.3979
Subject(s) - aneuploidy , biology , chromosome , genetics , microarray , gene , gene expression
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. © 2012 John Wiley & Sons, Ltd.