应用微阵列比较基因组杂交技术诊断一例9p三体合并6q部分三体患儿  

Improved identification for trisomy 9p and partial trisomy 6q presented in a patient by array-based comparative genomic hybridization

作　　者：张建林[1] 蔡晋[2] 杨益梅[1] 王珊珊[1] 姚锋[1] 黄超[3] 李红[3] 李海波[3] 张玉泉[1] 

机构地区：[1]南通大学附属医院妇产科,江苏省南通市226001 [2]南通大学附属医院儿科,江苏省南通市226001 [3]南京医科大学附属苏州医院生殖与遗传中心,苏州215002

出　　处：《中华医学遗传学杂志》2016年第6期829-832,共4页Chinese Journal of Medical Genetics

基　　金：重点病种的临床规范诊疗（HS2014073）;江苏省临床医学科技专项（BL2013019）;苏州市临床医学中心项目（Szzx201505）

摘　　要：目的确定1例智力障碍、发育迟缓患儿的遗传学病因，探讨微阵列比较基因组杂交技术（array-based comparative genomic hybridization, aCGH）在其诊断中的应用价值。方法应用常规外周血淋巴细胞培养G显带对患儿及父母进行核型分析后，进一步应用aCGH分析确定患儿衍生染色体的来源和大小。结果G显带染色体分析显示患儿核型为47，XX，＋der（9）？t（6；9）（q26；q21），患儿母亲核型为46，XX，t（6；9）（q26；q21），父亲核型未见明显异常。aCGH分析结果显示患儿9p24．3-q21．13部分三体，大小约为78．26Mb，重复区域包括9p三体综合征关键区；6q26-q27部分三体，大小约为6．6Mb，该重复区域与个体发育迟缓相关。结合aCGH检测结果，确定患儿核型为47，XX，＋der（9）t（6；9）（q26；q21．13）mat。结论患儿的异常染色体来源于平衡易位的母亲，智力障碍和发育迟缓等表型可能是9p三体合并6q部分三体所致。核型分析联合aCGH可确定衍生染色体的来源和大小，有助于遗传学病因的分析。Objective To analyze the genetic cause for a child with growth retardation and mental retardation and discuss the application of array-based comparative genomic hybridization （aCGH） in its molecular genetic diagnosis. Methods Conventional karyotyping of peripheral blood for the family was carried out. aCGH was performed to further ascertain the size and origin of the additional chromosome fragments. Results In the trio family here, the karyotype of the father was normal, the karyotype of the mother was46,XX, t（6;9）（q26;q21）and the proband child＇s was 47,XX,＋der（9）？ t（6;9）（q26;q21）. aCGH showed that the extra chromosomal fragments originated from chromosome 9p24.3-q21.13 and the size was 78.26 Mb, and the repeat region included the 9p trisomy＇s clinical area. At the same time, it was confirmed that 6q26-q27 was trisomic and the fragment that related to development delay was 6.6 Mb. We determined that the proband＇ s karyotype was 47, XX, ＋ der （9） t （ 6 ; 9） （q26 ; q21.13） mat finally. Conclusion The patient＇s abnormal chromosome has originated from her mother with balance translocation. The duplications of 9p24. 3-q21. 13 and 6q26-q27 may lead to growth retardation and mental retardation.Accompanied with the cytogenetic methods, aCGH can accurately identify the origin and size of the abnormal chromosomes, contributing to the genetic analysis.

关 键 词：9p三体综合征 6q部分三体 核型分析 微阵列比较基因组杂交 

分 类 号：R72[医药卫生—儿科]