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一名患有Y;19平衡易位的不育男性。Y;常染色体易位的综述。

An infertile male with balanced Y;19 translocation. Review of Y;autosome translocations.

作者信息

Smith A, Fraser I S, Elliott G

出版信息

Ann Genet. 1979;22(4):189-194.

PMID:399165
Abstract

Cytogenetic studies on a phenotypically normal male, presenting with infertility, revealed a balanced Y;19 translocation - 46,XY,t (Y;19) (q11; p or q13). The patient had a normal hormone profile, but semen analysis showed immature cells in the fluid. The possible mechanisms causing the infertility are discussed. An extensive review of the literature of Y ; autosome translocations indicates that there are 2 types, those in which the broken segment of the Y is translocated to the short arm or centromeric region of an acrocentric chromosome, and those in which the Y material is translocated onto a long or short arm region of a non-acrocentric chromosome. The first type is less frequently associated with infertility and hypogonadism than the second type. There is presumptive evidence that the first type is non-random.

摘要

对一名表现为不育的表型正常男性进行的细胞遗传学研究显示,存在一种平衡的Y;19易位——46,XY,t(Y;19)(q11;p或q13)。该患者激素水平正常,但精液分析显示精液中有未成熟细胞。文中讨论了导致不育的可能机制。对Y;常染色体易位文献的广泛综述表明,有两种类型,一种是Y的断裂片段易位到近端着丝粒染色体的短臂或着丝粒区域,另一种是Y物质易位到非近端着丝粒染色体的长臂或短臂区域。与第二种类型相比,第一种类型与不育和性腺功能减退的关联较少。有初步证据表明第一种类型是非随机的。

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