中国儿童保健杂志 ›› 2017, Vol. 25 ›› Issue (8): 852-853.DOI: 10.11852/zgetbjzz2017-25-08-30

• 经验交流 • 上一篇    下一篇

齐齐哈尔地区260例遗传咨询智障儿童的细胞遗传学研究

王秀华,冯化杰,张明龙,吕莹,郑立红   

  1. 齐齐哈尔医学院生物遗传教研室,黑龙江 齐齐哈尔 161006
  • 收稿日期:2016-10-26 发布日期:2017-08-10 出版日期:2017-08-10
  • 通讯作者: 郑立红,E-mail:zlhqy@sina.com
  • 作者简介:王秀华(1964-),黑龙江人,高级实验师,主要研究方向为遗传病的细胞遗传学研究。
  • 基金资助:
    黑龙江省齐齐哈尔市科技局社会发展攻关重点项目(SFGG-201564)

Study on chromosome abnormal karyotype of mental retardation children Qiqihar area

WANG Xiu-hua,FENG Hua-jie,ZHANG Ming-long,LV Ying,ZHENG Li-hong   

  1. Department of Biogenetics,Qiqihar Medical University,Qiqihar,Heilongjiang 161006,China
  • Received:2016-10-26 Online:2017-08-10 Published:2017-08-10
  • Contact: ZHENG Li-hong,E-mail:zlhqy@sina.com

摘要: 目的 通过对260例遗传咨询有智力障碍儿童的细胞遗传学分析,探讨染色体异常与智力发育障碍的关联效应,便于采取有效的预防干预措施。方法 取患者外周血进行淋巴细胞培养,常规收获,G显带,显微镜下进行核型分析。结果 260例智力障碍儿童中,发现染色体异常108例,总检出率 41.54%(108/260)。 异常者中单纯型21-三体综合征50例,检出率46.29%(50/108);结构异常检出11例,检出率为10.18%(11/108)。检出染色体多态10例,检出率为3.85%(10/260)。结论 染色体异常是导致先天畸形或智力低下的重要原因,对此类患儿进行染色体检查和对孕妇进行产前筛查非常必要,可提高异常染色体的检出率,能够有效降低智力障碍儿童的出生率,对提高优生优育具有重要意义。

关键词: 染色体异常, 智力障碍, Down综合征

Abstract: Objective To analyse the incidence of abnormal karyotype of the mental retardation (MR) children in Qiqihar area. Method A total of 260 cases of MR children were used peripheral blood cell culture method and G banding karyotype detection. Results Among 260 cases of MR children,abnormal karyotypes detection rate was 41.54%(108/260).Among them,standard 21-trisomy syndrome:50 cases,detection rate was 46.29%(50/108).Strueutarl abnormalities of 11 cases were detected with detection rate of 10.18% (11/108). Conclusions MR children and abnormal karyotypes are closely related,mainly with abnormal karyotype of chromosome 21-trisomy syndrome.It is important to analyze the chromosome karyotype of the MR of children.

Key words: abnormal karotype, mental retardation, Down syndrome

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