环状染色体患儿25例的临床表型及遗传学分析  

Clinical phenotypes and genetic analysis of 25 children with ring chromosomes

作　　者：王超杰[1] 赵鼎 李瑞[1] 张振华[1] 孔京慧 章波 李娴 李林飞 张耀东 Wang Chaojie;Zhao Ding;Li Rui;Zhang Zhenhua;Kong Jinghui;Zhang Bo;Li Xian;Li Linfei;Zhang Yaodong(Henan Key Laboratory of Children's Genetic and Metabolic Diseases,Children's Hospital Afiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou 450018,China)

机构地区：[1]郑州大学附属儿童医院,河南省儿童医院,郑州儿童医院,河南省儿童遗传代谢性疾病重点实验室,郑州450018

出　　处：《中华实用儿科临床杂志》2024年第7期528-532,共5页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的探讨环状染色体(RCs)患儿的临床表型与遗传学特征的相关性。方法病例系列研究。回顾性分析2008年10月至2023年10月因生长发育迟缓、智力障碍或先天畸形于河南省儿童医院就诊并进行外周血染色体核型分析检测的11 434例患儿的临床资料, 从中收集核型分析结果为RCs患儿25例, 对其诊断年龄、核型分布、临床表现及遗传学检测结果进行分析。结果 11 434例患儿核型分析共检出RCs 25例, 环状检出率为0.21%。其中7例RCs进行了全基因组拷贝变异(CNV)分析, 结果均存在致病性变异。在25例RCs患儿中, 诊断年龄为2个月至14岁;社会性别为男11例, 女14例;常染色体环20例, 性染色体环5例;嵌合体核型13例, 非嵌合体核型12例。25例RCs患儿多存在智力障碍或发育迟缓的临床表现, 部分患儿还伴有矮小、先天性畸形、癫痫等特异性临床表现。结论 RCs致病机制复杂, 临床表现由环状染色体综合征和由剂量效应引起的特异性表型共同决定, 异质性强, 容易漏诊、误诊, 联合运用细胞及分子遗传学检测技术有助于RCs患儿及早诊治, 同时对表型与遗传学特征的相关性进行分析可为遗传咨询提供指导。Objective To investigate the correlation between clinical phenotypes and genetic characteristics of children with ring chromosomes(RCs).Methods Case series study.The clinical data of 11434 children who received treatment and peripheral blood chromosome karyotype detection in Henan Children′s Hospital from October 2008 to October 2023 due to growth retardation,intellectual impairment or congenital malformation were analyzed retrospectively.A total of 25 children with RCs were selected.Their age at diagnosis,karyotype distribution,clinical manifestations,and genetic detection results were analyzed.Results RCs were detected in 25 out of 11434 children,with a detection rate of 0.21%.The genome-wide copy number variation(CNV)analysis was performed on 7 RCs cases,and it found that pathogenic variation existed in all of them.Among the 25 RC cases(11 males and 14 females of social gender),the age at diagnosis ranged from 2 months to 14 years;there were 20 autosomal rings and 5 sex chromosome rings;13 cases had chimeric karyotypes,and 12 cases had non-chimeric karyotypes.Most of the 25 children showed clinical manifestations of mental or developmental retardation,and some also presented with specific clinical manifestations,such as short stature,congenital malformation,and epilepsy.Conclusions The pathogenesis of RCs is complex.The clinical manifestations are determined by both RCs syndrome and specific phenotypes caused by the dose effect and exhibit high heterogeneity,so it is easy to miss or misdiagnose.The combined application of cellular and molecular genetic detection technology can facilitate early diagnosis and treatment of RCs,and the correlation analysis of phenotypes and genetic characteristics can provide guidance for genetic counseling.

关 键 词：儿童 环状染色体 发育迟缓 核型分析 基因组拷贝数变异分析 

分 类 号：R725.9[医药卫生—儿科]