Article
45,X/46,X,idic(Yq) mosaicism: clinical, cytogenetic, and molecular studies in four individuals.
American journal of medical genetics - 6 Aug 1998
Teraoka M, Narahara K, Yokoyama Y, Tsuji K, Kikkawa K, Ito S, Koyama K, Seino Y
Abstract excerpt
45,X/46,X,idic(Yq) mosaicism is associated with a variety of sex phenotypes, including Ullrich-Turner syndrome (UTS), intersexuality, and complete male. It remains unclear whether the phenotypic variability results from a dilutional effect by the 45,X cell line in the primordial gonad or an abnormality of the SRY gene (SRY). We conducted cytogenetic and molecular studies on four patients with such mosaicism, two...
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