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一名不育男性的核型为45,X:这怎么可能?

45,X karyotype in an infertile man: how is this possible?

作者信息

Amaro Aline, Mafra Fernanda Abani, Valada Pane Caio Eduardo, Kulikowski Leslie D, Bianco Bianca, Barbosa Caio Parente, Christofolini Denise Maria

机构信息

Human Reproduction and Genetics Center, Faculdade de Medicina do ABC, Santo André, Brazil.

出版信息

Urol Int. 2015;94(4):488-90. doi: 10.1159/000365010. Epub 2014 Aug 20.

Abstract

The case was male, 32 years old, with a nonobstructive azoospermia diagnosis and an initial 45,X karyotype. We evaluated by classical cytogenetic methods, C and NOR banding, fluorescent in situ hybridization, and polymerase chain reaction investigations. After investigation, we found the following karyotype: 45,X,dic(Y;22)(q11.223;p11.2). This investigation contributes to our understanding of how chromosome rearrangements can influence fertility processes and how important it is to perform a cytogenetic analysis in infertility cases.

摘要

该病例为一名32岁男性,诊断为非梗阻性无精子症,初始核型为45,X。我们通过经典细胞遗传学方法、C带和NOR带分析、荧光原位杂交以及聚合酶链反应研究进行评估。经过调查,我们发现了以下核型:45,X,dic(Y;22)(q11.223;p11.2)。这项研究有助于我们理解染色体重排如何影响生育过程,以及在不育病例中进行细胞遗传学分析的重要性。

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