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  • Title: Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
    Author: Zinn AR, Ouyang B, Ross JL, Varma S, Bourgeois M, Tonk V.
    Journal: Clin Genet; 1997 Oct; 52(4):235-9. PubMed ID: 9383030.
    Abstract:
    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 syndrome and genotype/phenotype correlations of X chromosome deletions.
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