[一名患有性腺发育不全及特纳综合征体征的女性患者存在[45,X/46, XYnf/47, XYnfYnf/46, X, dic (Ynf) (q12)]嵌合体]
[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].
作者信息
Gil R, Galán F, López-Ginés C, Gregori-Romero M, Millet A, Pellín A, Llombart-Bosch A
机构信息
Departamento de Patología, Facultad de Medicina de la Universidad de Valencia.
出版信息
Rev Clin Esp. 1991 Jun;189(1):23-5.
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.
一名17岁女孩因原发性闭经和特纳综合征特征被转诊至我院。从外周血淋巴细胞培养物中获得的核型为mos 45,X/46,XYnf/47,XYnfYnf/46,X,dic(Ynf)(q12)。来自双侧性腺培养物的成纤维细胞核型为mos 45,X/46,XYnf/47,XYnfYnf。在所有检测的细胞系中，Y染色体均无荧光。我们在此报告一名具有不寻常性染色体嵌合体患者的临床和细胞遗传学发现。
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