一例法洛四联征伴睑裂狭小综合征的基因芯片扫描及表型分析  

Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Faliot

作　　者：朱湘玉[1] 王亚平[1,2] 赵光锋[1] 顾雷雷[1] 李洁[1] 朱瑞芳[1] 胡娅莉[1] 

机构地区：[1]南京大学医学院附属南京鼓楼医院妇产科、江苏省产前诊断中心,210008 [2]南京大学医学院

出　　处：《中华医学遗传学杂志》2015年第5期670-673,共4页Chinese Journal of Medical Genetics

基　　金：江苏省卫生科研项目（W201209）;江苏省科技发展计划（2012省324）;南京市临床医学中心项目

摘　　要：目的分析一例法洛四联征伴面容异常、脑发育不良患儿的遗传学病因与表型的关系。方法应用染色体微阵列芯片（chromosomemicroarray，CMA）进行患儿及父母外周血DNA拷贝数分析，并对其母亲的胎儿进行羊水DNA拷贝数分析。结果CMA分析结果为arr[hg19]3q22．1q23（129494906—139334475）×1，患儿染色体3q22．1-q23存在约8．9Mb的片段拷贝数缺失。此区域包含74个基因，其中41个为OMIM收录基因。此片段拷贝数缺失与多种临床综合征有关。患儿表现为睑裂狭小，上睑下垂，内眦赘皮、法洛四联征、脑发育不良、精神运动发育障碍，符合3q22—23缺失的表型，其中法洛四联征在此类缺陷中尚未见报道。患儿父母及同胞均未见此变异。结论染色体3q22—23微缺失与患儿睑裂狭小、脑发育不良、发育迟缓等临床表型相关，而法洛四联征也可成为该片段缺失的表型。CMA分析技术比传统细胞遗传学检测具有更为精确的定位，有助于疾病的深入发现与探索。Objective To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype. Methods Routine G-banding has been previously performed on the patient and her parents. Chromosome microarray analysis（CMA） was performed for the three individuals and the fetus. Results Chromosomal analysis has suggested normal karyotypes for the child and her parents. However, a de novo 8. 9 Mb deletion on chromosome 3q22.1-q23 was detected by CMA. The deleted region has encompassed 74 genes including 41 disease-related genes, and this is also the most frequent region involved in interstitial 3q deletion. Patients with deletion of this region often have a common feature of dysplasia of eyelids, as well as a spectrum of other anomalies according to different breakpoints, including microcephaly, skeletal anomalies, congenital heart defects, cranial anomalies, intellectual disability and developmental delay. The patient＇s phenotype was in accordance with such spectrum. Her parents and sib did not show this variation by CMA. Conclusion The de novo interstitial deletion of 3q22. 1-q23 probably underlies the main clinical manifestation in this child. CMA can provide more detailed information and allow further investigation of the genotype-phenotype correlation.

关 键 词：染色体微阵列芯片 染色体3q22.1q23 睑裂狭小-上睑下垂-逆向内眦赘皮综合征 法洛四联征 

分 类 号：R779.64[医药卫生—眼科]