ArticleCytogenetic and genome research2012
Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.
Article in Cytogenetic and genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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Who cites it
2 citing papers in PubMed, 8 citations in OpenAlex.
- Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.Molecular genetics & genomic medicine · 2018Article
- Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication DisruptingMolecular syndromology · 2017Article
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Authors and funding
8 authors at 3 institutions in 1 country.
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Abstract
aimTo 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.
methodsCases 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.
resultsCases 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.
conclusionHSXI in a blood sample is rarely due to X-chromosome copy number changes detectable by microarray.
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Registered trials
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