Article
Two male patients with ring Y: definition of an interval in Yq contributing to Turner syndrome.
Journal of medical genetics - 1 Jul 1999
Tzancheva M, Kaneva R, Kumanov P, Williams G, Tyler-Smith C
Abstract excerpt
Turner syndrome is thought to result from the haploinsufficiency of genes on the sex chromosomes, but these genes have not been identified yet. We describe two males with deleted ring Y chromosomes, one (TS) with full Turner syndrome and one (DM) without. TS has short stature, skeletal anomalies, lymphogenic obstruction, cardiovascular abnormalities, and miscellaneous features including pigmented naevi,...
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