Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome |
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| Authors: | GS Letterie |
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| Affiliation: | Department of Obstetrics and Gynecology, Virginia Mason Medical Center, Seattle, WA 98111, USA. |
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| Abstract: | This is a report of a patient with delayed puberty and a previously unreported translocation 46,X -X, +der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. |
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