Article
The physical phenotype of girls and women with Turner syndrome is not X-imprinted.
Human genetics - 1 May 2007
Bondy Carolyn A, Matura Lea Ann, Wooten Nicole, Troendle James, Zinn Andrew R, Bakalov Vladimir K
Abstract excerpt
Certain behavioral and metabolic aspects of Turner syndrome (TS) are attributed to X-chromosome genomic imprinting. To investigate the possible contribution of imprinting to the physical features of the TS phenotype in live-born individuals, we genotyped the single normal X-chromosome in subjects with TS who all underwent a comprehensive evaluation as part of the NIH genotype-phenotype protocol. All had physical...
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