首页|河南地区1126对不良孕产史患者的细胞遗传学分析

河南地区1126对不良孕产史患者的细胞遗传学分析

Chromosomal analysis of 1126 couples with adverse pregnancy history in Henan

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目的 分析孕产史夫妇的染色体异常检测结果,为不良孕产史患者提供遗传咨询.方法 2017年3月,在我中心咨询的1126对孕产史夫妇,行外周血行淋巴细胞培养,G显带和染色体核型分析.结果 1126对孕产史夫妇中,共检测出62例染色体异常,染色体异常检出率为5.51% (62/1126). 62例染色体异常患者中,平衡易位1 9例,占30.65%;克氏综合征11例,占17.74%;未知衍生染色体10例,占16.13%;罗氏易位7例,占11.29%;倒位6例,占9.68%;性反转3例,占4.84%;嵌合体2例,占3.2 3%;特纳综合征、缺失、唐氏综合征和超雌综合征各1例,占1.61%.结论 夫妇双方染色体异常是导致不良孕产史的遗传学因素之一,同时应注意其他因素的影响.
Objective:To analyze the chromosome abnormality testing results of the copies with pregnancy history and to provide genetic counseling to the patients with adverse pregnancy history.Methods:The peripheral blood of 1126 couples with pregnancy history,who were genetic consultants of the department of Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in March 2017,was collected to culture lymphocyte and performed G banding karyotype analysis.Results:Of the 1126 couples with adverse pregnancy history,62 cases were detected as abnormal chromosome;the chromosome abnormality detection rate was 5.51% (62/1126).Of 62 cases of chromosomal abnormalities,there were 19 cases of balanced translocation,accounting for 30.65% (19/62),11 cases of Klinefelter's syndrome,accounting for 17.74% (11/62),10 cases of unknown derived chromosomes,accounting for 16.13% (10/62),7 cases of robertsonian translocation,accounting for 11.29% (7/62),6 cases of inversion,accounting for 9.68% (6/62),3 cases of sex reversal syndrome,accounting for 4.84% (3/62),2 cases of chimaera,accounting for 3.23% (2/62),1 case of Turner syndrome,accounting for 1.61% (1/62),1 case of deletion,accounting for 1.61% (1/62),1 case of Down's syndrome,accounting for 1.61% (1/62),and 1 case of superfemale syndrome,accounting for 1.61% (1/62).Conclusions:Chromosome abnormality is one of the important genetic causes to the adverse pregnancy history;also the other factors should be noted.

Adverse pregnancyChromosomal abnormalitiesKaryotype analysis

代鹏、赵干业、侯雅勤、鲁宁、孔祥东

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郑州大学第一附属医院遗传与产前诊断中心,郑州 河南450052

不良孕产史 染色体异常 核型分析

郑州大学第一附属医院院内青年基金

2017

中国优生与遗传杂志
中国优生科学协会

中国优生与遗传杂志

CSTPCD
影响因子:0.527
ISSN:1006-9534
年,卷(期):2017.25(12)
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