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[45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12) mosaicism in a female patient with gonadal dysgenesis and the stigmata of Turner's syndrome].
Rosario Gil, Francisco Galán, Concha López‐Ginés, M. Gregori-Romero, Arnaud Millet, Antonio Pellı́n, Antonio Llombart‐Bosch
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Abstract
A 17-year-old girl was referred to us because of primary amenorrhea and features of Turner's Syndrome. The karyotype obtained from peripheral lymphocytes cultures was mos 45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12). The karyotype of fibroblasts derived from cultures of both gonads was mos 45, X/46, XYnf/47, XYnfYnf. The Y chromosome was non-fluorescent in all the examined lines. We report here the clinical and cytogenetic findings in a patient with an unusual sex chromosome mosaicism.