6285例遗传咨询儿童外周血染色体核型分析  

Cytogenetic analysis on 6285 children in genetic counseling

作　　者：高晓鹏[1] 杨颖[2] GA O Xiaopeng;YANG Ying(Central Laboratory,Xi'an Children's Hospital,Xi'an,Shaanxi 710002,China;Shaanxi Institute for Pediatric Diseases,Xi'an Children's Hospital,Xi'an,Shaanxi 710002,China)

机构地区：[1]西安市儿童医院中心实验室,陕西西安710002 [2]西安市儿童医院/陕西省儿科疾病研究所,陕西西安710002

出　　处：《中国优生与遗传杂志》2022年第4期645-649,共5页Chinese Journal of Birth Health & Heredity

基　　金：陕西省创新能力支撑计划(2019KJXX-055)。

摘　　要：目的 对本地区6285例小儿遗传咨询者外周血染色体核型进行分析,探讨染色体异常与临床效应的关系。方法 收集整理本地区2007年1月至2020年12月期间来本院遗传咨询的6285例小儿的外周血染色体G显带核型结果及临床表现,进行回顾性分析。结果 6285例儿童中,有1562例出现染色体核型异常,异常检出率为24.85%。其中有1261例为染色体数目异常,临床表现为智力低下及特殊面容者1107例,占87.79%(1107/1261),其中21-三体占比最高,占86.12%(1086/1261);染色体结构异常共有301例,占19.27%(301/1562),其中多态性174例,占11.14%(174/1562)。性染色体数目及结构异常合计194例,占12.42%(194/1562)。结论 染色体核型数目异常明显多于结构异常,常染色体数目异常仍是儿童最常见的染色体畸变类型,其次是性染色体数目及结构异常,这是主要导致儿童智力低下、身材矮小及性发育异常等临床表型的重要原因。Objective To explore the relationship between chromosomal abnormalities and clinical effects in children by analyzing chromosome karyotypes. Methods The chromosome karyotype and clinical manifestations in peripheral blood of 6285 children who came to xi’an Children’s Hospital for genetic counseling from January 2007 to December 2020 were collected and analyzed retrospectively. Results In 6285 children, there were 1562 abnormal karyotypes were detected, with an abnormal rate of 24.85%. Among them, 1261 of chromosome number abnormalities, and 1107 cases(87.79%) were clinically manifested as mental retardation and special facial features. Among them, the highest proportion of abnormal karyotype is 21-trisomy(86.12%, 1086/1261). There were 301 cases(19.27%, 301/1562) with abnormal chromosomal structure, and 174 cases(11.14%, 174/1562) with chromosomal polymorphism. There were 194 cases(12.42%, 194/1562) with abnormal sex chromosome number and structure. Conclusion In all, the karyotype with number abnormality is more than structural abnormality. The number abnormality in chromosome autosomal is still the most common type of chromosome aberration in children, followed by the number and structure abnormality in sex chromosome, which is the main cause of children’s mental retardation, short stature, sexual development abnormality and other clinical phenotypes.

关 键 词：染色体核型 遗传咨询 儿童 发育异常 

分 类 号：R725.9[医药卫生—儿科] R440[医药卫生—临床医学]