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非罗伯逊易位 t(2;11)与一位少精子症男性的不育症有关。

Non-Robertsonian translocation t (2;11) is associated with infertility in an oligospermic man.

机构信息

Department of Cell Biology, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.

出版信息

Andrologia. 2014 May;46(4):453-5. doi: 10.1111/and.12120. Epub 2013 Jun 5.

Abstract

Infertility is a major health problem which affects approximately 22% of married couples in reproductive age. Chromosomal defects are the most common genetic abnormalities in infertile men, with an incidence of cytogenetic abnormalities ranging from 2.1% to 15.5%. We describe here the clinical and cytogenetic studies carried out in a couple with repeated abortions. Cytogenetic analysis of the couple showed a de novo chromosomal translocation t (2;11)(p14;q21) in the male partner and a normal 46, XX karyotype in the female counterpart. Such an autosomal translocation may lead to the disruption of genes responsible for spermatogenesis or impaired synaptic complex pairing during meiosis resulting in reproductive failure.

摘要

不孕是一个主要的健康问题,影响大约 22%处于生育年龄的已婚夫妇。染色体缺陷是不孕男性中最常见的遗传异常,细胞遗传学异常的发生率从 2.1%到 15.5%不等。我们在这里描述了一对反复流产夫妇的临床和细胞遗传学研究。对这对夫妇的细胞遗传学分析显示,男性伴侣中存在新发生的染色体易位 t(2;11)(p14;q21),而女性伴侣的核型正常,为 46,XX。这种常染色体易位可能导致与精子发生有关的基因中断,或减数分裂过程中突触复合物配对受损,从而导致生殖失败。

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