Ruthner U, Maschik S, Friedrich F, Breitenecker G
Hum Genet. 1979 Apr 17;48(1):135-7. doi: 10.1007/BF00273288.
A partial long arm deletion of one X chromosome was observed in a patient with secondary amenorrhea and with no features of Turner's syndrome. It was shown that the deleted X chromosome was the inactivated one in all metaphases of the lymphocyte culture and of the tissue culture from gonadal biopsy. The patient was detected during a cytogenetic study of secondary amenorrhea of ovarian origin.
在一名继发性闭经且无特纳综合征特征的患者中观察到一条X染色体长臂部分缺失。结果显示,在淋巴细胞培养物以及性腺活检组织培养物的所有中期相中,缺失的X染色体均为失活的X染色体。该患者是在对卵巢源性继发性闭经进行细胞遗传学研究期间被检测出来的。