title: 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.forename: Keren
authors.initials: K
authors.lastname: Markus-Bustani
authors.forename: Yuval
authors.initials: Y
authors.lastname: Yaron
authors.forename: Myriam
authors.initials: M
authors.lastname: Goldstein
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
authors.forename: Shay
authors.initials: S
authors.lastname: Ben-Shachar
mesh_terms: D000328:Adult; D000782:Aneuploidy; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods*; D003951:Diagnostic Errors; D005260:Female; D018628:Gene Dosage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics