国际生殖健康/计划生育杂志

国际生殖健康/计划生育杂志 ›› 2025, Vol. 44 ›› Issue (2): 125-127.doi: 10.12280/gjszjk.20240399

• 病例报告 • 上一篇    下一篇

2号染色体臂间倒位合并罗伯逊易位一家系的遗传学分析

戴凯妹, 张晶晶, 程世斌, 赵倩, 郝胜菊, 王兴()   

  1. 730050 兰州，甘肃省妇幼保健院/甘肃省中心医院医学遗传中心，甘肃省出生缺陷防控重点实验室与罕见病临床研究中心
  • 收稿日期:2024-08-19 出版日期:2025-03-15 发布日期:2025-03-10
  • 通讯作者: 王兴，E-mail：15293113710@163.com
  • 基金资助:
    甘肃省科技计划项目-民生科技专项-社会发展专题(20CX4FA003);甘肃省卫生健康行业科研项目(GSWSKY2020-39)

Genetic Etiology Analysis of A Family of Interbrachial Inversion of Chromosome 2 Combined with Robertson Translocation

DAI Kai-mei, ZHANG Jing-jing, CHENG Shi-bin, ZHAO Qian, HAO Sheng-ju, WANG Xing()   

  1. Medical Genetics Center, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Provincial Maternity and Child-Care Hospital / Gansu Provincial Central Hospital, Lanzhou 730050, China
  • Received:2024-08-19 Published:2025-03-15 Online:2025-03-10
  • Contact: WANG Xing, E-mail: 15293113710@163.com

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摘要：

报告1例结婚3年未避孕未孕的女性患者及其亲属的细胞遗传学分析。采用外周血细胞遗传学分析技术检测患者及其亲属的染色体核型。患者染色体核型为45,XX,inv(2)(p23q21),der(14;22)(q10;q10)，患者父亲核型为45,XY,der(14;22)(q10;q10)，患者二姐核型为45,XX,der(14;22)(q10;q10)，其母亲、丈夫及大姐核型正常。患者既存在2号染色体的臂间倒位，又存在14号染色体和22号染色体的罗伯逊易位，两种染色体易位均可能是造成其不孕的原因。

关键词: 染色体倒位, 易位, 遗传, 不育, 女（雌）性, 细胞遗传学分析, 病例报告

Abstract:

We report the cytogenetic analysis of a female patient who had been married for three years without pregnancy and her relatives. The karyotypes of the patient and the relatives were detected by peripheral blood cytogenetic analysis. The karyotypes of the patients were 45,XX,inv(2)(p23q21),der(14;22)(q10;q10), the father karyotype of the patient was 45,XY,der(14;22)(q10;q10), the karyotype of second sister was 45,XX,der(14;22)(q10; q10). Her mother, husband and eldest sister had normal karyotypes. The patient had both interbrachial inversion on chromosome 2 and Robertson translocation on chromosome 14 and chromosome 22, both of them may be the cause of infertility.

Key words: Chromosome inversion, Translocation, genetic, Infertility, female, Cytogenetic analysis, Case reports