Article
Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
Clinical genetics - 1 Oct 1997
Zinn A R, Ouyang B, Ross J L, Varma S, Bourgeois M, Tonk V
Abstract excerpt
We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daughter had ovarian failure. These observations have implications for the diagnosis of Ullrich-Turner...
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