Asthenozoospermia in a patient with reciprocal translocation t(12;15): A case report

IF 0.5 Q4 UROLOGY & NEPHROLOGY
Tea Mladenić , Anita Barišić , Ivan Vukelić , Antun Gršković , Nada Starčević Čizmarević , Jadranka Vraneković
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引用次数: 0

Abstract

Reciprocal translocation is a chromosomal aberration where fragments are exchanged between two non-homologous chromosomes. Its prevalence is estimated at 0.16–0.2 % in the general population, rising to 1.3 % among infertile men. We report a 34-year-old Caucasian male with asthenozoospermia who was admitted for genetic testing. G-banding revealed a reciprocal translocation between chromosomes 12 and 15, with a karyotype of 46,XY,t(12;15)(p13.2?q15). Fluorescence in situ hybridisation confirmed this translocation using specific probes for chromosomes 12 and 15. This case highlights a rare chromosomal translocation t (12; 15) (p13.2? q15) associated with asthenozoospermia. Further sequencing analysis is needed to determine the precise breakpoints and assess potential genotype-phenotype correlations.
反向易位患者的弱精子症1例(12;15)
互惠易位是一种染色体畸变,其中片段在两个非同源染色体之间交换。据估计,其在普通人群中的患病率为0.16 - 0.2%,在不育男性中上升至1.3%。我们报告一个34岁的白种人男性与弱精子症谁是入院进行基因检测。g带显示12号染色体和15号染色体之间存在反向易位,核型为46,XY,t(12;15)(p13.2?q15)。荧光原位杂交利用12号和15号染色体的特异性探针证实了这种易位。该病例突出了罕见的染色体易位t (12;15) (p13.2 ?Q15)与弱精子症有关。需要进一步的测序分析来确定精确的断点并评估潜在的基因型-表型相关性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Urology Case Reports
Urology Case Reports Medicine-Urology
CiteScore
0.90
自引率
20.00%
发文量
325
审稿时长
37 days
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