885例遗传咨询者的细胞遗传学分析

Cytogenetic examination in 885 cytogenetic consultation cases

目的通过对近年885例遗传咨询患者外周血染色体异常类别及发生率进行统计分析,为临床遗传疾病的诊断提供参考数据。方法对324例因母亲孕期唐氏综合征筛查高危或出生后体检异常等原因进行遗传咨询的新生儿和561例因不良孕产史、智力/性发育迟缓等就诊的患者进行染色体核型分析检查。结果检出染色体异常116例,异常率13.11%。其中,染色体数目和结构异常40例,占异常率的34.48%。不同疾患者群中染色体异常的类型和比例不同。结论染色体数目异常和性染色体异常是出生缺陷、智力发育迟缓、性分化异常患者中常见的病因;而不良孕产史患者中以多态性和结构异常最常见。

Objective In order to get reference data for diagnosis of clinical genetic disease through analyzing chromosome ab‐normality types and rates in 885 patients who ask for cytogenetics consultation in recent years .Methods 324 newborns who asked for cytogenetics consultation because of high risk factors in down′s screening during pregnancy or found abnormality in physical ex‐amination after birth and 561 patients with history of spontaneous abortion ,infertility or fetal death ,growth or mental retardation , sexual abnormality were examined for karyotype analysis .Results 116 cases of chromosome abnormal karyotypes were detected , count for 13 .11% ,among which ,40 cases（34 .48% ） are chromosomal aberration .Chromosome abnormality types and rates are dif‐ferent in patients with different type of diseases .Conclusion Abnormalities in chromosome numbers and sex chromosome abnor‐mality account for the main causes of growth and mental retardation ,abnormalities of sexual differentiation and development ;but for couples suffered from spontaneous abortion ,polymorphism and structure abnormalities takes up the highest portion .