探讨染色体微阵列分析在无明显表型异常成年人中的临床应用 [中文引用][英文引用]

目的　探讨染色体微阵列分析（CMA）技术在无明显表型异常成年人中的临床应用。方法　选取2014年1月至2016年5月在广东省妇幼保健院医学遗传中心进行的，无明显表型异常成人外周血CMA病例，共计136例进行回顾性分析,所有病例均进行了染色体G显带核型分析及CMA检测。结果　33例因产前诊断胎儿CMA阳性进行外周血CMA检测，外周血CMA检测结果阳性有10例，占总病例的30.3%，占家庭数的52.6%；76例因不良生育史进行外周血CMA检测，外周血CMA检测结果阳性有9例，占总病例的11.8%，占家庭数的16%；25例因夫妇一方染色体异常进行外周血CMA检测，外周血CMA检测结果阳性有3例，占总病例的12%；2例因特殊家族史进行外周血CMA检测的，外周血CMA均未见明显异常。结论　对于无明显表型异常的成年群体可以有针对性的选择CMA检测，可以明确其遗传学病因，从而提供更全面详细的细胞遗传学信息及遗传咨询。

Objective To evaluate the contribution of chromosome microarray analysis (CMA) in adults those who with no obvious phenotypic abnormalities. Methods 136 no obvious phenotypic abnormality cases between January 2014 and May 2016 were retrospectively, at Medical Genetics Center of Guangdong Women and Children’s Hospital, all of the cases were evaluated by the traditional karyotype and CMA. Results Fetal prenatal diagnosis CMA positive group have 33 cases,10 cases of peripheral blood CMA positive, accounting for 30.3% of the total cases,52.6% of the number of households; adverse reproductive history group have 76 cases, 9 cases of peripheral blood CMA positive , accounting for 11.8% of the total cases, 16% of the number of households; one of the couple chromosomal abnormalities group have 25 cases, 3 cases of peripheral blood CMA positive, accounting for 12% of the total cases; special family history group have 2 cases, peripheral blood CMA results were no significant abnormalities. Conclusions The application of CMA in adults with no obvious phenotypic abnormalities, can identify the etiology genetic, provide more comprehensive and detailed cytogenetic information and genetic counseling.