携带环状染色体患儿9例细胞遗传学诊断及临床特征分析  

Cytogenetics and clinical characteristics of nine children with ring chromosome syndrome

作　　者：王安娣 杨斌[2] WANG Andi;YANG Bin(Center for Reproduction and Genetics,Suzhou Municipal Hospital,Suzhou 215000,China;Laboratory Department,Children′s Hospital of Soochow University)

机构地区：[1]苏州市立医院生殖与遗传中心,苏州215000 [2]苏州大学附属儿童医院检验科

出　　处：《山西医科大学学报》2024年第5期650-656,共7页Journal of Shanxi Medical University

摘　　要：目的探讨环状染色体综合征患儿细胞遗传学特点及临床表型特征。方法选取2015年1月至2021年12月在苏州大学附属儿童医院就诊并进行外周血染色核型分析发现的9例环状染色体患儿,收集其基本临床信息及病史资料,并对3例患者染色体微阵列分析(CMA)和2例全外显子测序分析(WES)结果进行分析。结果9例环状染色体患儿中,3例r(X),1例r(5),1例r(6),2例r(14)和2例r(22),其中除了1例r(14)患儿没有发现嵌合现象,其余8例环状染色体患儿均可见染色体嵌合现象。5例环状染色体患儿全基因组相关检测均发现有不同程度的染色体末端缺失。环状染色体综合征常见临床表现包括生长发育迟缓、智力障碍和面容异常等,其中部分环状染色体可导致一些特异性临床表现,如r(X)导致性腺发育不良及甲状腺功能异常,r(5)导致猫叫综合征以及r(22)导致肌张力低下。结论环状染色体的表型与基因型具有相关性和高度异质性,通常存在动态嵌合现象,其染色体末端均存在缺失,环状染色体综合征患儿可出现非特异性和特异性临床表现。Objective To investigate the cytogenetic and clinical phenotypic characteristics of children with ring chromosome syndrome.Methods A total of nine children diagnosed with ring chromosome syndrome were selected from January 2015 to December 2021 in Children′s Hospital of Soochow University to collect basic clinical information and history information.Chromosome microarray analysis(CMA)results of three cases and whole exome sequencing(WES)results of two cases were analyzed.Results Karyotype analysis showed 3 of 9 children were X-ring chromosome(r(X)),one was ring chromosome 5(r(5)),one was ring chromosome 6(r(6)),two were ring chromosome 14(r(14))and two were ring chromosome 22(r(22)).In addition,dynamic mosaicism in ring chromosome was found except for one case of r(14).The results of CMA and WES showed the deletion of the end of the ring chromosome in all five children.Common clinical manifestations of ring chromosome syndrome included growth retardation,intellectual impairment and abnormal facial features etc.Some ring chromosomes led to some specific clinical manifestations,such as r(X)-induced gonadal dysplasia and thyroid dysfunction,r(5)-induced Cri-du-Chat syndrome,and r(22)-induced hypotonia.Conclusion The phenotype and the genotype of circular chromosomes are correlated and highly heterogeneous,often exhibiting dynamic chimerism,with deletions at the ends of chromosomes.Children with circular chromosome syndrome may exhibit non-specific and specific clinical manifestations.

关 键 词：环状染色体 染色体核型分析 基因型-表型 染色体微阵列分析 全外显子测序分析 

分 类 号：R725.9[医药卫生—儿科]