新生儿2q37缺失伴4q部分三体全基因组拷贝数变异(CNVs)分析  

Copy number variations(CNVs)analysis in one neonatal with 2q37 deletion and 4q partial trisomy syndrome

作　　者：胡萍[1] 杨琳[1] 詹国栋[1] 马端[2] 黄国英[1] 周文浩[1] 

机构地区：[1]复旦大学附属儿科医院新生儿科-卫生部新生儿疾病重点实验室-上海市出生缺陷防治重点实验室,上海201102 [2]复旦大学基础医学院-分子医学教育部重点实验室,上海200032

出　　处：《复旦学报（医学版）》2014年第2期183-190,共8页Fudan University Journal of Medical Sciences

基　　金：上海市科委重大课题子课题(11dz1950300);上海市科委重大课题(11DZ1950302);上海市卫计委重要疾病联合攻关项目(沪卫技科教2013-018)~~

摘　　要：目的应用SNP芯片检测方法,对染色体结果为46,XX,add(2)(q37)的1例新生儿多发畸形患儿进行全基因组拷贝数变异(copy number variants,CNVs)的检测,分析其中罕见CNVs与表型的相关性。方法对于1例新生儿多发畸形病例,采用Affymetrix SNP芯片筛查全基因组CNVs,经过筛选得到罕见潜在致病性CNVs。将这些CNVs片段结合患儿的表型进行文献比对。结果本例患儿的主要表型包括:小耳畸形、外耳廓卷曲、小下颌、颈蹼、双手通贯掌、双足内翻、室间隔缺损、动脉导管未闭、卵圆孔未闭、肺动脉高压、二尖瓣狭窄、脊柱后凸畸形。本例患儿共得到潜在致病性CNVs片段4个,大小为4 282.936kb^17 912.863kb,集中在2号、4号染色体长臂,邻近合并后得到2个,分别为2q37.1~q37.3缺失和4q32.3~q35.2重复。文献回顾,发现本例患儿耳部、心脏、骨骼畸形等表型与2q37缺失综合征有关;而更多相应表型如耳部、下颌、颈部畸形和通贯掌、足内翻、心脏畸形、脊柱畸形则与4q部分三体综合征有交叉。结论本研究首次报道了1例罕见的2q37缺失综合征合并4q部分三体综合征的复杂染色体变异。Objective To screen genomic copy number variants （CNVs） in one 46,XX,add（2）（q37） neonate with multiple congenital abnormalities using Affymetrix SNP chip,and to identify the correlation between genotype and phenotype.Methods The proband was screened by using Affymetrix SNP chip for detection of genomic copy number variations.Rare CNVs with potential clinical significance were detected,which were reviewed with literature and clinic findings.Results The major clinical features of the proband included microtia,folded auricle,micrognathia,webbed neck,bilateral single palmar crease,bilateral varus feet,ventricular septal defect,patent ductus arteriosus,patent foramen ovale,pulmonary hypertension,mitral stenosis and spinal kyphosis.Four CNVs with potential clinical significance were obtained sizing from4 282.936 kb to 17 912.863 kb,all of these CNVs were found on the long arm of chromosome 2 and 4,and merged the nearby position,2 CNVs were took into consideration as the causal CNVs,which were 2q37.1 to q37.3 deletion and 4q32.3 to q35.2 duplication.Reviewing literature we considered the abnomal ears,heart and bone malformation were related to the 2q37 deletion syndrome,while more clinic feathers like the anomalies of ears,malformed hands and feet,heart defect,and vertebral abnormal were overlapped with the partial 4q trisomy snydrome.Conclusions We here presented the first report of a rare case which had a combination clinical features of both the 2q37 monosomy snydrome and the partial 4q trisomy snydrome.

关 键 词：2q37缺失综合征 4q部分三体综合征 基因组拷贝数变异 新生儿多发畸形 

分 类 号：R722.11[医药卫生—儿科] Q343.244[医药卫生—临床医学]