9p-三体综合征的全基因组芯片扫描技术诊断及文献复习

Diagnosis of an uncertain karyotype and mentally retarded child using the whole genome microarray scanning technique

目的探讨全基因组芯片扫描技术在核型不明确智力落后患儿诊断中的应用及其优越性。方法对1例智力发育迟缓、染色体核型分析为47,XY,+mar的患儿进行分析,提取其外周血基因组DNA,应用全基因组芯片扫描技术分析衍生染色体的来源。结果全基因组芯片扫描技术证实多出的mar染色体来源于9p13.1-p24.3区间,确诊该患儿为9p部分三体综合征。结论与传统的细胞遗传分析方法相比,全基因组芯片扫描技术能够高分辨、高通量和高准确性地检测出常规核型分析无法检测到的亚显微水平染色体畸变,可以作为常规核型分析的替代。

Objective To investigate the possibility and feasibility of the whole genome microarray scanning technique in clinical cytogenetic diagnosis of an uncertain karyotype and mentally retarded child. Methods The karyotype analysis of the mental development delayed child was 47, XY＋mar. Genomic DNA was extracted from the peripheral blood and the whole genome microarray scanning technique was used to analyze the derivative chromosome. Results The whole genome microar-ray scanning technique indicated the derivative chromosome fragment had originated from 9p13.1-p24.3. Conclusions Com-paring to conventional cytogenetic analysis methods, the whole genome microarray scanning technique is of high resolution, high-throughput and high accuracy, which can detect the submicroscopic chromosomal aberrations and replace the conven-tional karyotype analysis.