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

V. Jobanputra*, B. Levy, A. Kinney, S. Brown, M. Shirazi, C. Yu, J. Kline, D. Warburton

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)264-269
Number of pages6
JournalCytogenetic and Genome Research
Issue number4
StatePublished - Jun 2012


  • Copy number changes
  • Microarray
  • Skewed X-inactivation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Molecular Biology


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