一名患有阴蒂肥大的女孩中的双着丝粒Y染色体嵌合体。
Dicentric Y-chromosome mosaicism in a girl with clitoral hypertrophy.
作者信息
de Chieri P R, Hirschhorn K
出版信息
Hum Genet. 1979 Nov 1;52(1):149-52. doi: 10.1007/BF00284610.
PMID:575104
Abstract
A 12-year-old girl with small stature and a hypertrophic clitoris was found to be mosaic for 45,X/46,X.dic(Y)(qtertop11:p11toqter)/46,XX/47,XX,dic(Y)(qtertop11:p11toqter). The dicentric chromosome was identified using Q-banding. These findings indicate mitotic instability of the dicentric Y, as well as the presence of an X chromosome in this patient.
摘要
一名身材矮小且阴蒂肥大的12岁女孩被发现存在45,X/46,X.dic(Y)(qtertop11:p11toqter)/46,XX/47,XX,dic(Y)(qtertop11:p11toqter)的嵌合体情况。通过Q带分析鉴定出了双着丝粒染色体。这些发现表明双着丝粒Y染色体存在有丝分裂不稳定性，并且该患者体内存在一条X染色体。
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