Article
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 - 1 May 2018
Mason Jane A, Aung Hnin T, Nandini Adayapalam, Woods Rickie G, Fairbairn David J, Rowell John A, Young David, Susman Rachel D, Brown Simon A, Hyland Valentine J, Robertson Jeremy D
Abstract excerpt
BACKGROUND: We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X-inactivation was observed in both the proband and her clinically normal mother. METHODS: Bidirectional Sanger sequencing of all F8 gene coding regions and exon/intron boundaries was undertaken. Methylation-sensitive restriction enzymes were utilized to investigate skewed...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.