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Risk evaluation and preimplantation genetic diagnosis in an infertile man with an unbalanced translocation t(10;15) resulting in a healthy baby.

作者信息

Cheng De-Hua, Gong Fei, Lu Chang-Fu, Li Lu-Yun, Lu Guang-Xiu, Tan Yue-Qiu

机构信息

Reproductive and Genetic Hospital of Citic-Xiangya, Changsha, Hunan, 410078, People's Republic of China.

出版信息

J Assist Reprod Genet. 2012 Nov;29(11):1299-304. doi: 10.1007/s10815-012-9857-0. Epub 2012 Sep 22.

DOI:10.1007/s10815-012-9857-0
PMID:23001237
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3510377/
Abstract
摘要

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1
Risk evaluation and preimplantation genetic diagnosis in an infertile man with an unbalanced translocation t(10;15) resulting in a healthy baby.一名患有不平衡易位t(10;15)的不育男性的风险评估与植入前基因诊断，最终诞下健康婴儿。
J Assist Reprod Genet. 2012 Nov;29(11):1299-304. doi: 10.1007/s10815-012-9857-0. Epub 2012 Sep 22.
2
10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: case report.一名不育男性的10号与15号染色体相互易位：精子的超微结构及荧光原位杂交研究：病例报告
Hum Reprod. 2003 Nov;18(11):2302-8. doi: 10.1093/humrep/deg460.
3
Infertility in a man with oligoasthenoteratozoospermia associated with nonrobertsonian translocation t(9;15)(p10;q10).
Fertil Steril. 2006 Oct;86(4):1001.e7-9. doi: 10.1016/j.fertnstert.2006.02.124.
4
Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families.两个家系中传递的相似 t(7;10)易位的精子和胚胎分析。
Fertil Steril. 2011 Jul;96(1):e66-70. doi: 10.1016/j.fertnstert.2011.04.042. Epub 2011 May 11.
5
Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.对两名患有t(15;18)不平衡易位的健康不育兄弟进行精子荧光原位杂交分析：对遗传咨询和生殖管理的启示
Eur J Med Genet. 2010 May-Jun;53(3):127-32. doi: 10.1016/j.ejmg.2010.03.003. Epub 2010 Mar 17.
6
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.
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A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports.通过荧光原位杂交（FISH）检测进行植入前基因诊断后，der(15)t(Y;15)(Yq12;15p11)易位携带者的正常分娩：两例病例报告
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A rare non-Robertsonian translocation with chromosome fusion der(5;15)(q35.3;q10): segregation analysis in male meiosis and preimplantation embryos.一种罕见的非罗伯逊易位伴染色体融合der(5;15)(q35.3;q10)：男性减数分裂和植入前胚胎的分离分析
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Inheritance of imbalances in recurrent chromosomal translocation t(11;22): clarification by PGT-SR and sperm-FISH analysis.反复性染色体易位 t(11;22)不平衡的遗传：通过 PGT-SR 和精子-FISH 分析阐明。
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Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes.在相互易位伴或不伴近端着丝粒染色体的植入前基因诊断周期中，对植入前胚胎的染色体失衡进行评估。
Fertil Steril. 2008 Dec;90(6):2144-51. doi: 10.1016/j.fertnstert.2007.10.035. Epub 2008 Apr 28.

引用本文的文献

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Self-diploidization of human haploid parthenogenetic embryos through the Rho pathway regulates endomitosis and failed cytokinesis.人类单倍体孤雌胚胎通过 Rho 通路的自我二倍化调节着核内有丝分裂和失败的胞质分裂。
Sci Rep. 2017 Jun 26;7(1):4242. doi: 10.1038/s41598-017-04602-y.
2
Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype.对一名表型正常但患有不孕症患者的der(10)t(10;18)进行微阵列分析和减数分裂分离研究
Asian J Androl. 2017 Jan-Feb;19(1):135-137. doi: 10.4103/1008-682X.172818.

本文引用的文献

1
Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.对两名患有t(15;18)不平衡易位的健康不育兄弟进行精子荧光原位杂交分析：对遗传咨询和生殖管理的启示
Eur J Med Genet. 2010 May-Jun;53(3):127-32. doi: 10.1016/j.ejmg.2010.03.003. Epub 2010 Mar 17.
2
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques.2078对接受辅助生殖技术治疗的不孕夫妇的染色体异常患病率。
Hum Reprod. 2005 Feb;20(2):437-42. doi: 10.1093/humrep/deh626. Epub 2004 Nov 26.
3
The genetic basis of infertility.不孕症的遗传基础。
Reproduction. 2003 Jul;126(1):13-25. doi: 10.1530/rep.0.1260013.
4
Chromosomal studies in infertile men.不育男性的染色体研究。
Tsitol Genet. 2001 Nov-Dec;35(6):50-4.
5
Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism.假双着丝粒染色体（5；21）：母系生殖细胞嵌合体的罕见实例。
Hum Reprod. 2001 Jan;16(1):63-66. doi: 10.1093/humrep/16.1.63.
6
Telomere-telomere (end to end) fusion of chromosomes 7 and 22 with an interstitial deletion of chromosome 7p11.2-->p15.1: phenotypic consequences and possible mechanisms.7号和22号染色体的端粒-端粒（端对端）融合伴7号染色体7p11.2→p15.1区间缺失：表型后果及可能机制
Clin Genet. 2000 Aug;58(2):129-33. doi: 10.1034/j.1399-0004.2000.580207.x.
7
Mitotic chromosomal anomalies among infertile men.
Hum Reprod. 1997 Oct;12(10):2337-8. doi: 10.1093/humrep/12.10.2337.
8
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients.
Hum Genet. 1997 Jun;99(6):755-60. doi: 10.1007/s004390050443.
9
Cytogenetics of infertile men.不育男性的细胞遗传学
Hum Reprod. 1996 Dec;11 Suppl 4:1-24; discussion 25-6. doi: 10.1093/humrep/11.suppl_4.1.
10
Mitotic chromosomal anomalies among 1210 infertile men.1210名不育男性的有丝分裂染色体异常
Hum Reprod. 1996 Dec;11(12):2604-8. doi: 10.1093/oxfordjournals.humrep.a019178.