1例3p部分三体综合征患儿的临床表型与遗传学分析  

Phenotypic and genetic analysis of a child with partial trisomy 3p syndrome

作　　者：廖珍华 罗玉琴[2] LIAO Zhenhua;LUO Yuqin(Department of Clinical Laboratory,Liuzhou People's Hospital,Liuzhou,Guangxi 545006,China;Department of Reproductive Genetics,Women's Hospital School of Medicine Zhejiang University,Hangzhou,Zhejiang 310006,China)

机构地区：[1]柳州市人民医院检验科,广西柳州545006 [2]浙江大学医学院附属妇产科医院生殖遗传科,浙江杭州310006

出　　处：《中国优生与遗传杂志》2023年第5期1040-1044,共5页Chinese Journal of Birth Health & Heredity

基　　金：浙江省基础公益研究计划(LGC20H200003)。

摘　　要：目的 明确1例体格发育异常合并多发畸形患儿染色体拷贝数变异的性质和来源,并分析基因与表型相关性。方法 采用G显带染色体核型分析及单核甘酸多态性微阵列芯片(SNP-array)技术对患儿进行检测,并用荧光原位杂交(FISH)进行验证。患儿父母外周血样本进行染色体核型分析及其母亲外周血样本进行荧光原位杂交(FISH)分析。结果 G显带染色体核型结果为:46,XY,der(2)t(2;3)(p25.3;p24.1),SNP-array分析结果显示患儿染色体3p26.3p24.1存在30.4Mb重复,2p25.3存在1.39Mb缺失。结论 患儿3p26.3p24.1重复与3p部分三体综合征(partialtrisomy3p syndrome)相关,该重复是导致患儿多发畸形及发育异常的主要遗传学病因。3p部分三体综合征临床表型差异较大,患儿临床特征与基因型有一定关联,临床诊断时应结合临床表型及遗传学检测技术进行综合诊断。Objective To determine the origin and nature of chromosomal aberration for a child featuring multiple malformation,and to correlate the genotype with phenotype.Methods G-banding chromosome karyotype analysis and single nucleotide polymorphism array(SNP array)were used to detect the children,and verified by fluorescence in situ hybridization.Chromosome karyotype analysis was performed in the peripheral blood of parents and fluorescence in situ hybridization(FISH)analysis was performed in the peripheral blood of mothers.Results Karyotype result of G-banded chromosome was as follows:46,XY,der(2)t(2;3)(p25.3;p24.1),and the SNP-array shows that there is a 30.4 Mb duplication in 3p26.3p24.1 and a 1.39 Mb deletion in 2p25.3.Conclusion The 3p26.3p24.1 duplication is associated with partial trisomy 3p syndrome,which is the main genetic cause of multiple malformations and developmental abnormalities in children.The clinical phenotype of 3p partial trisomy syndrome is quite different,and the clinical diagnosis should be combined with clinical phenotype and genetic testing technology for differential diagnosis.

关 键 词：3p部分三体综合征 单核苷酸多态性微阵列芯片 孤独症谱系障碍 基因型 

分 类 号：R714.5[医药卫生—妇产科学]