北京大学学报(医学版) ›› 2018, Vol. 50 ›› Issue (4): 729-731. doi: 10.3969/j.issn.1671-167X.2018.04.027

• 病例报告 • 上一篇    下一篇

1例复杂染色体易位伴男性不育患者的家系核型分析及文献复习

吴桂杰,马帅,郑连文,徐影,孟繁鹤,代晓微△   

  1. (吉林大学第二医院生殖中心, 长春130041)
  • 出版日期:2018-08-18 发布日期:2018-08-18
  • 通讯作者: 代晓微 E-mail: davidjdey@163.com

A complex chromosome translocation with male infertility of karyotype analysis and literature review

WU Gui-jie, MA Shuai, ZHENG Lian-wen, XU Ying, MENG Fan-he, DAI Xiao-wei△   

  1. (Reproductive Center, The Second Hospital of Jilin University, Changchun 130041, China)
  • Online:2018-08-18 Published:2018-08-18
  • Contact: DAI Xiao-wei E-mail: davidjdey@163.com

摘要: 染色体复杂易位是累及3条以上染色体,有3个以上断裂点的染色体结构异常,这种异常非常罕见。染色体畸变携带者一般个体表型正常,但是在减数分裂时发生平衡易位的染色体及其同源染色体发生联会交换,生成配子时发生遗传物质变化,这类配子受精后形成的胚胎遗传物质严重不平衡,往往表现出不育、不孕、流产、死胎或者胎儿畸形等不良后果的发生,本文就1例复杂染色体易位伴男性不育患者进行病例分析。

关键词: 易位, 基因, 不育, 男性, 核型分析, 系谱

Abstract: One case of family chromosomal karyotype with complex chromosomal translocation and male infertility was reported. This case is a male, 30 years old, Han nationality, who did not receive contraception for 3 years after marriage. The phenotype and intelligence of the patients were normal, and there were no abnormalities in the external genitalia. No abnormalities were found in the prostate and spermatic vein. There was no history of parotitis or testicular trauma, no history of smoking, drinking history, denial of harmful substances and history of radioactive contact. There were no similar patients in the family, and the secondary sex was normal. The routine semen examination suggested that the active sperm was seldom seen. There were no obvious abnormalities in the serum endocrine examination of the patient. Cytogenetic examination: the patient’s karyotype 46XY, t (10; 18; 21) (q22; p11.2; q11.2). There was no deletion in locus sY84, sY86, sY127, sY134, sY143, sY254 and sY255. His wife’s examination showed no obvious abnormality, and her karyotype was normal. The parents of the patients were not close relatives. Their father’s chromosome karyotype analysis was 46, XY, and Y chromosome microdeletion was normal. The chromosome karyotype of the parent was 46XX, t (10; 18; 21), and the parents of the patient also had a daughter, whose phenotype and intellectual development were normal, chromosome karyotype 46XX, t (10; 18; 21). In this case, the patient’s balance translocation should be inherited by the mother. Because of the normal phenotype of the patient, there was no loss of genetic material, but the abnormal chromosomes might be passed to the offspring, and the proportion of the unbalanced gametes was very high. Through systematic review and review of the cases, it was concluded that the balanced translocation carriers only changed the relative position of the translocation segments on the chromosomes, retained the total number of the original genes, only changed the relative position of the genes on the chromosomes, and had no serious effect on the role of the gene and the development of the individual. The phenotype was normal. The patients were given symptomatic treatment to improve semen quality. It is recommended that pre-implantation genetic screening/diagnosis(PGS/PGD) be performed if necessary. It is to guide married men and women to choose the appropriate childbearing age, avoid unhealthy environmental contacts, and strengthen genetic screening before and after pregnancy, so as to achieve the goal of eugenics.

Key words: Translocation, genetic, Infertility, male, Karyotyping, Pedigree

中图分类号: 

  • R698.2
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