一例罕见的涉及五条染色体复杂重排智力低下患者的遗传学分析  

Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of fivechromosomes

作　　者：潘琼[1] 金鑫[1] 朱立彦 胡月[1] 张峰婷 程龙飞[1] 宁颖[1] 

机构地区：[1]江苏省淮安市妇幼保健院医学遗传科,223002

出　　处：《中华医学遗传学杂志》2017年第4期534-537,共4页Chinese Journal of Medical Genetics

基　　金：江苏省妇幼健康科研项目（F201670）;江苏省“333工程”科研项目（BRA2014132）

摘　　要：目的对1例严重智力低下合并1次不良孕产史的女性患者进行遗传学分析，探讨导致异常表型的遗传学原因。方法对患者进行外周血G显带染色体核型分析，采用单核苷酸多态性微阵列技术（single nucleotide polymorphism array,SNP array）检测染色体拷贝数变异，分析染色体变异与临床表现的关系。结果患者染色体核型为涉及5条染色体的复杂重排，SNParray检测显示在染色体15q21．3和5q21．1区分别存在1．6Mb以及0．5Mb的微缺失。结论患者的染色体微缺失区域所涉及的TCF12、ADMA10和AQP9等基因可能是导致患者智力低下的原因。Objective To explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy. Methods The patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array （SNP-array） assaying. The correlation between genomic variations and the phenotype was explored. Results The patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21, 3 which involved 15 RefSeq genes and a 0.5 Mb mierodeletion at 5q21.1 which involved one RefSeq gene. Conclusion The mierodeletions, which involved TCF12, ADMAIO and AQP9 genes, probably underlie the mental retardation shown by the patient.

关 键 词：染色体复杂重排 智力低下 染色体微缺失 单核苷酸多态性微阵列技术 

分 类 号：R440[医药卫生—诊断学] R714.2[医药卫生—临床医学]