Article
Phenotype and X inactivation in 45,X/46,X,r(X) cases.
American journal of medical genetics. Part A - 30 Jul 2004
Leppig Kathleen A, Sybert Virginia P, Ross Judith L, Cunniff Christopher, Trejo Tina, Raskind Wendy H, Disteche Christine M
Abstract excerpt
We studied a new series of 21 individuals mosaic for a ring X chromosome [r(X)]. Of nine individuals with mental retardation, only one had a r(X) that lacked XIST (X-inactive-specific transcript) and was not subject to X inactivation, which would explain the abnormal phenotype; the remaining eight cases had XIST on their r(X). The majority of cases (five of seven) with mental retardation had an apparently early...
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