Article
Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.
Seminars in reproductive medicine - 1 Jun 2001
Leppig K A, Disteche C M
Abstract excerpt
Patients who carry a structural abnormality of the X chromosome are a fascinating group who have provided opportunities to evaluate genotype/phenotype correlation in relation to X chromosome content and inactivation. Turner syndrome (TS) is most commonly associated with a 45,X karyotype and presents with an array of phenotypes, the main ones being poor viability in utero, ovarian failure and infertility, short...
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