一名患有X;3易位患者的性腺发育不全：病例报告及文献复习
Gonadal dysgenesis in a patient with an X;3 translocation: case report and review.
作者信息
Carpenter N J, Say B, Browning D
出版信息
J Med Genet. 1980 Jun;17(3):216-21. doi: 10.1136/jmg.17.3.216.
Abstract
A patient with primary amenorrhoea and absence of secondary sex characteristics was found to have a balanced X;3 translocation. This phenotype is reported in approximately one-third of the balanced X;autosome translocation cases. The normal X chromosome is inactive in the present case which is in agreement with most of the similar cases. A review of the 66 balanced X;autosome translocations reported to date is presented.
摘要
一名原发性闭经且无第二性征的患者被发现存在一条平衡的X;3易位染色体。在大约三分之一的平衡X;常染色体易位病例中报告了这种表型。在本例中，正常的X染色体失活，这与大多数类似病例一致。本文对迄今为止报道的66例平衡X;常染色体易位进行了综述。
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