Diagnosis of an uncertain karyotype and mentally retarded child using the whole genome microarray scanning technique
10.3969/j.issn.1000-3606.2013.11.019
- VernacularTitle:9p-三体综合征的全基因组芯片扫描技术诊断及文献复习
- Author:
Yu DING
;
Yongguo YU
;
Xiaodong HUANG
;
Juan LI
;
Yongnian SHEN
;
Peirong YANG
- Publication Type:Journal Article
- Keywords:
the whole genome microarray scanning technique;
G-banded chromosome analysis;
partial trisomy 9p;
children
- From:
Journal of Clinical Pediatrics
2013;(11):1074-1077
- CountryChina
- Language:Chinese
-
Abstract:
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.
