一名不育男性中的染色体易位t(10;19)(q11.2;q13.4)
Chromosomal Translocation t (10;19) (q11.2;q13.4) in an Infertile Male.
作者信息
Kara Murat, Sen Askin, Cetin Esin Sakallı, Kargun Kursat
机构信息
Department of Medical Genetics, Mugla Sitki Kocman University Faculty of Medicine, Mugla, Turkey.
Department of Medical Genetics, Firat University Hospital Faculty of Medicine, Elazig, Turkey.
出版信息
Eurasian J Med. 2014 Oct;46(3):220-3. doi: 10.5152/eajm.2014.33. Epub 2014 Jul 8.
Abstract
Chromosomal rearrangements are usually associated with male factor infertility. We report here a 34-year-old man suffering from primary infertility for 15 years. The cytogenetic analysis and investigation of Y-chromosome microdeletions were performed. A reciprocal balanced translocation t (10;19) (q11.2;q13.4) was found in oligozoospermic infertile men with no Y-chromosome microdeletions. In this case, we aimed to evaluate the 46,XY,t (10;19) (q11.2;q13.4) karyo-type, which was detected through a cytogenetic analysis of a person referred to our genetic laboratory due to primary infertility, in the light of the literature.
摘要
染色体重排通常与男性因素不育相关。我们在此报告一名34岁男性，患有原发性不育症15年。进行了细胞遗传学分析和Y染色体微缺失检测。在无Y染色体微缺失的少精子症不育男性中发现了相互平衡易位t(10;19)(q11.2;q13.4)。在本病例中，我们旨在根据文献评估通过对因原发性不育转诊至我们遗传实验室的一名患者进行细胞遗传学分析检测到的46,XY,t(10;19)(q11.2;q13.4)核型。
相似文献
1
Chromosomal Translocation t (10;19) (q11.2;q13.4) in an Infertile Male.一名不育男性中的染色体易位t(10;19)(q11.2;q13.4)
Eurasian J Med. 2014 Oct;46(3):220-3. doi: 10.5152/eajm.2014.33. Epub 2014 Jul 8.
2
Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco.摩洛哥不育男性的染色体异常和Y染色体微缺失
BMC Urol. 2015 Sep 18;15:95. doi: 10.1186/s12894-015-0089-3.
3
Analysis of 2 men with t(8;22)(q13;q13) and t(8;14)(q13;q22) chromosomal translocation karyotypes.分析 2 例 t(8;22)(q13;q13) 和 t(8;14)(q13;q22) 染色体易位核型的男性。
Medicine (Baltimore). 2022 Oct 14;101(41):e31091. doi: 10.1097/MD.0000000000031091.
4
Chromosomal abnormalities and y chromosome microdeletions in infertile men with varicocele and idiopathic infertility of South Indian origin.南印度裔精索静脉曲张性不育和特发性不育男性的染色体异常及Y染色体微缺失
J Androl. 2004 Jan-Feb;25(1):147-53. doi: 10.1002/j.1939-4640.2004.tb02770.x.
5
Chromosomal rearrangements in three infertile men.三名不育男性的染色体重排
Andrologia. 1986 Mar-Apr;18(2):147-51. doi: 10.1111/j.1439-0272.1986.tb01752.x.
6
Severe oligospermia associated with a unique balanced reciprocal translocation t(6;12)(q23;q24.3): male infertility related to t(6;12).严重少精症与独特的平衡相互易位 t(6;12)(q23;q24.3)相关：t(6;12)与男性不育相关。
Andrologia. 2011 Apr;43(2):145-8. doi: 10.1111/j.1439-0272.2009.01020.x. Epub 2010 Dec 19.
7
An infertile male with balanced Y;19 translocation. Review of Y;autosome translocations.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。
Ann Genet. 1979;22(4):189-194.
8
Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey.土耳其东南部少精子症和无精子症不育男性的细胞遗传学和Y染色体微缺失筛查研究
J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):559-65. doi: 10.1007/s10815-008-9272-8. Epub 2008 Oct 25.
9
Balanced Reciprocal Translocation: Multiple Chromosome Rearrangements in an Infertile Female.平衡易位：一名不孕女性的多条染色体重排
J Hum Reprod Sci. 2019 Jan-Mar;12(1):72-74. doi: 10.4103/jhrs.JHRS_122_18.
10
Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia.病例报告：一名患有畸形精子症的不育男性患者存在平衡易位t(17; 22)(p11.2; q11.2)及10q23.31微重复
Front Genet. 2022 May 26;13:797813. doi: 10.3389/fgene.2022.797813. eCollection 2022.
引用本文的文献
1
Clinical analysis of the effect of embryonic outcomes in carriers of chromosomal translocations from different parental sources: A retrospective cohort study of 178 couples.不同亲代来源的染色体易位携带者胚胎结局影响的临床分析：一项对178对夫妇的回顾性队列研究
J Obstet Gynaecol Res. 2025 Aug;51(8):e70044. doi: 10.1111/jog.70044.
2
ZAP70: A Key Gene Identified by Differential Expression Analysis for Early Diagnosis of Fetuses with Emanuel Syndrome.ZAP70：通过差异表达分析鉴定的用于 Emanuel综合征胎儿早期诊断的关键基因。
Biochem Genet. 2025 Jun;63(3):2161-2171. doi: 10.1007/s10528-024-10808-3. Epub 2024 Apr 30.
3
Hereditary chromosomal 9 inversion (p22q13) 9 as a cause for recurrent pregnancy loss: a case report.遗传性染色体 9 倒位（p22q13）9 导致复发性流产：病例报告。
J Med Case Rep. 2023 Oct 13;17(1):427. doi: 10.1186/s13256-023-04137-z.
4
Clinical feature of infertile men carrying balanced translocations involving chromosome 10: Case series and a review of the literature.携带涉及10号染色体平衡易位的不育男性的临床特征：病例系列及文献综述
Medicine (Baltimore). 2018 Apr;97(15):e0452. doi: 10.1097/MD.0000000000010452.
5
Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.四名不平衡易位患者的临床和分子细胞遗传学分析
Mol Cytogenet. 2016 Apr 19;9:31. doi: 10.1186/s13039-016-0244-x. eCollection 2016.
6
Chromosomal Abnormalities in Infertile Men from Southern India.印度南部不育男性的染色体异常
J Clin Diagn Res. 2015 Jul;9(7):GC05-10. doi: 10.7860/JCDR/2015/14429.6247. Epub 2015 Jul 1.
本文引用的文献
1
Molecular cytogenetic and genetic aspects of globozoospermia: a review.圆头精子症的分子细胞遗传学和遗传学方面：综述。
Andrologia. 2013 Feb;45(1):1-9. doi: 10.1111/j.1439-0272.2012.01308.x. Epub 2012 May 10.
2
De novo chromosomal translocation t(3;5)(q13;q35) in an infertile man.一不育男性中存在新发的染色体易位 t(3;5)(q13;q35)。
Andrologia. 2011 Dec;43(6):428-30. doi: 10.1111/j.1439-0272.2010.01069.x. Epub 2011 Sep 15.
3
Impact of reciprocal translocation t (18; 21) on male infertility and embryo development: lessons from an oocyte-donating ICSI cycle.平衡易位 t(18;21) 对男性不育和胚胎发育的影响：卵母细胞捐赠 ICSI 周期的启示。
J Assist Reprod Genet. 2011 Jul;28(7):603-5. doi: 10.1007/s10815-011-9558-0. Epub 2011 Apr 1.
4
Severe oligospermia associated with a unique balanced reciprocal translocation t(6;12)(q23;q24.3): male infertility related to t(6;12).严重少精症与独特的平衡相互易位 t(6;12)(q23;q24.3)相关：t(6;12)与男性不育相关。
Andrologia. 2011 Apr;43(2):145-8. doi: 10.1111/j.1439-0272.2009.01020.x. Epub 2010 Dec 19.
5
Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family.相互平衡易位：一个家族中的不孕和复发性自然流产
Andrologia. 2011 Feb;43(1):75-7. doi: 10.1111/j.1439-0272.2009.01017.x. Epub 2010 Dec 19.
6
Male fertility, chromosome abnormalities, and nuclear organization.男性生育力、染色体异常与核组织
Cytogenet Genome Res. 2011;133(2-4):269-79. doi: 10.1159/000322060. Epub 2010 Nov 19.
7
Genetics of human male infertility.人类男性不育症的遗传学
Singapore Med J. 2009 Apr;50(4):336-47.
8
The genetics of male infertility.男性不育的遗传学
Semin Reprod Med. 2009 Mar;27(2):124-36. doi: 10.1055/s-0029-1202301. Epub 2009 Feb 26.
9
Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: report and review.土耳其西部地区179例男性不育患者的细胞遗传学异常：报告与综述
J Assist Reprod Genet. 2009 Mar;26(2-3):119-22. doi: 10.1007/s10815-009-9296-8. Epub 2009 Jan 30.
10
Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18).t(11;18)携带者减数分裂分离及染色体间效应的精子荧光原位杂交研究
Hum Reprod. 2008 Mar;23(3):581-8. doi: 10.1093/humrep/dem345. Epub 2008 Jan 7.
Zotero 插件