混合型性腺发育不全中的双着丝粒Y染色体
Dicentric Y chromosome in mixed gonadal dysgenesis.
作者信息
Hayek A, Yunis E
出版信息
J Med Genet. 1975 Jun;12(2):210-2. doi: 10.1136/jmg.12.2.210.
Abstract
A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in which at least one cell bears a Y chromosome.
摘要
一名15岁女孩因生殖器模糊不清而接受检查。她的染色体研究显示为45,X/45,Xdic(Yq)嵌合体。通过其典型的荧光带型证实了双着丝粒Y染色体的身份。观察到混合性性腺发育不全伴性腺内肿瘤的组织学证据，证实了与嵌合体相关的性腺母细胞瘤的发生，其中至少有一个细胞带有Y染色体。
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