1例染色体复杂结构异常患儿的遗传学病因分析  

Genetic analysis for a child with complex chromosomal structural abnormalities

作　　者：李莉 黄超[2] 王红英[3] 魏新亭 向菁菁[4] 刘敏娟[4] 王挺[4] 李海波[4,5] LI Li;HUANG Chao;WANG Hongying;WEI Xinting;XIANG Jingjing;LIU Minjuan;WANG Ting;LI Haibo(Department of Gynecology and Obstetrics,Yinchuan Maternal and Child Health Care Hospital,Yinchuan 750000,Ningxia;Central Laboratory,The Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou 215002,Jiangsu;Center for Reproduction and Genetics,The Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou 215002,Jiangsu;Department of Clinical Laboratory,Children's Hospital of Soochow University,Suzhou 215003,Jiangsu;Central Laboratory of Birth Defects Prevention and Control,Ningbo Women's and Children's Hospital,Ningbo 315012,Zhejiang,China)

机构地区：[1]银川市妇幼保健院妇产科,银川750000 [2]南京医科大学附属苏州医院中心实验室,江苏苏州215002 [3]苏州大学附属儿童医院检验科,江苏苏州215003 [4]南京医科大学附属苏州医院生殖与遗传中心,江苏苏州215002 [5]宁波市妇女儿童医院出生缺陷综合防治中心实验室,浙江宁波315012

出　　处：《临床检验杂志》2018年第11期817-820,共4页Chinese Journal of Clinical Laboratory Science

基　　金：宁夏回族自治区科技惠民项目(2016KJHM222);江苏省卫计委科技项目(H2017073);宁波市生殖医学品牌学科(PPXK2018-06);苏州市民生科技项目(SS201647);江苏省妇幼保健协会科研项目(FYX201720)

摘　　要：目的明确1例因肌张力低下,生长发育迟缓,反应迟钝就诊患儿的遗传学病因。方法用常规外周血淋巴细胞培养G显带对患儿及其父母进行核型分析,并采用SNP(single nucleotide polymorphisms)基因芯片进行染色体全基因组分析。结果G显带染色体分析初步判定患儿核型为46,XY,t(2; 12; 18; 14)(q31; p13; q21.3; q11.2),为4条染色体复杂易位; SNP芯片检测分析提示患儿染色体18q21.31-q22.3区域存在1.502 2×10~7bp的片段缺失。患儿父母染色体核型及芯片检测未见明显异常,患儿为新发复杂染色体结构异常。结论染色体18q21.31-q22.3微缺失及4条染色体的复杂易位可能是导致患儿疾病表型的重要原因。微阵列芯片有助于发现染色体易位时造成的亚显微结构异常。Objective To reveal the genetic cause of a child patient with muscular hypotonia,growth retardation and dull reaction. Methods G banding karyotype analysis was performed by routine culture of peripheral blood lymphocyte from the child and his parents, then genome-wide chromosomal analysis for the family was carried out by SNP (single nucleotide polymorphisms) microarray. Results The G banding karyotype of the child showed complex translocation in 4 chromosomes,described as 46,XY,t (2,12,18, 14) (q31,p13,q21.3,q11.2) . SNP-array analysis indicated a deletion of 1.502 2×10^7 bp fragment at chromosome 18q21.31-q22.3 region,but there were no obvious abnormalities in the chromosomal karyotype and SNP-array analysis of the parents. The complex chromosomal structural abnormalities in the child should be de novo. Conclusion The microdeletion of chromosomal 18q21.31-q22.3 and the complex translocation in 4 chromosomes might cause the phenotypes of disorders in the child. SNP-array should be helpful for revealing submicroscopic abnormalities in chromosomal translocation.

关 键 词：核型分析 复杂易位 18q微缺失 染色体微阵列分析 

分 类 号：R446[医药卫生—诊断学] R394.3[医药卫生—临床医学]