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Del (X)(p21.2) in a mother and two daughters with variable ovarian function
Author(s) -
Zinn Andrew R.,
Ouyang Bing,
Ross Judith L.,
Varma Surendra,
Bourgeois Michael,
Tonk Vijay
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02554.x
Subject(s) - daughter , genetics , biology , karyotype , turner syndrome , x chromosome , fluorescence in situ hybridization , phenotype , chromosome , fish <actinopterygii> , somatic cell , gene , endocrinology , evolutionary biology , fishery
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.