Cytogenetic analysis of 1077 children with trisomy 21
1077例21-三体综合征患儿的细胞遗传学分析

摘要

目的 通过分析1077例21-三体综合征患儿的染色体核型分布特点，探究21三体核型的形成机制，并提出遗传咨询及预防。方法 收集1077例21三体患者的标本，其中男性607例，女性470例，进行外周血染色体G显带核型分析。结果 按核型结果分布统计，1077例21三体患儿中检出单纯型21三体1002例，占比93.03%；易位型21三体55例，占比5.11%；嵌合型21三体20例，占比1.86%。按年龄人群分布统计（除去无统计意义数据），1-10岁、0-1岁人群的21三体检出率最高。按送检科室分布统计（除去无统计意义数据），新生儿及儿科相关科室检出率最高。结论 21三体综合征是新生儿出生缺陷中较常见的疾病，具有智力低下、特殊面容、发育迟缓等临床特征，其发病机制主要与母龄、遗传、环境等因素有关。染色体核型分析是目前较为成熟的遗传学诊断技术之一，在出生缺陷领域颇具临床价值。

Abstract

Objective By analyzing the karyotype distribution characteristics of 1077 children with trisomy 21, the formation mechanism of trisomy 21 was explored, and genetic counseling and prevention were proposed.
Methods Specimens from 1077 patients with trisomy 21, including 607 males and 470 females, were collected for peripheral blood chromosome G band karyotyping.
Results According to the distribution of karyotype results, 1002 cases of simple trisomy 21 were detected among 1077 children with trisomy 21, accounting for 93.03%; There were 55 cases of trisomy 21, accounting for 5.11%; There were 20 cases of chimeric 21 trisomy, accounting for 1.86%. According to the distribution of age groups (excluding non-statistically significant data), the detection rate of 21 three bodies in people aged 1-10 and 0-1 years old is the highest. According to the distribution of departments sent for examination (excluding non-statistically significant data), neonatal and pediatric related departments had the highest detection rate.
Conclusion   Trisomy 21 is a more common disease in neonatal birth defects, with clinical features such as mental retardation, special appearance, and developmental delay, and its pathogenesis is mainly related to maternal age, genetics, environment and other factors. Karyotyping is one of the more mature genetic diagnosis techniques and has clinical value in the field of birth defects.