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  • The following term was not found in PubMed: 2012;136.
Cytogenet Genome Res. 2012;136(4):264-9. doi: 10.1159/000337920. Epub 2012 Apr 20.

Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.

Author information

1
Department of Pathology, Mailman School of Public Health, Columbia University, New York, NY 10032, USA. vj2004@columbia.edu

Abstract

AIM:

To test the hypothesis that microdeletions or microduplications below the resolution of a standard karyotype may be a significant cause of highly skewed X-inactivation (HSXI) in women without a cytogenetically detected X-chromosome anomaly.

METHODS:

Cases were women with HSXI, defined as ≥85% of cells in a blood sample with the same active allele at the HUMARA locus. The skewing in controls ranged from 50 to <75%. We performed an SNP microarray analysis using the Affymetrix 6.0 platform for 45 cases and 45 controls.

RESULTS:

Cases and controls did not differ in the frequency of X-chromosome copy number changes ≥100 kb or in the frequency of copy number changes that contained genes. However, one woman with HSXI >90% in blood and left and right buccal smears had a 5.5-Mb deletion in Xp22.2p22.1. This deletion could affect the viability of male conceptions and may have led to the dysmorphology found in female carriers.

CONCLUSION:

HSXI in a blood sample is rarely due to X-chromosome copy number changes detectable by microarray.

PMID:
22516899
PMCID:
PMC4315938
DOI:
10.1159/000337920
[Indexed for MEDLINE]
Free PMC Article

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