Ontology highlight
ABSTRACT:
SUBMITTER: Jobanputra V
PROVIDER: S-EPMC4315938 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Cytogenetic and genome research 20120420 4
<h4>Aim</h4>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.<h4>Methods</h4>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 ...[more]