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Del (X)(p21.2) in a mother and two daughters with variable ovarian function

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.