Gene array analysis in 56 cases of children with growth retardation

VernacularTitle:56例生长障碍患儿单核苷酸多态性基因芯片检测结果分析
Author: Chunyun FU ; Shaoke CHEN ; Rongyu CHEN ; Xin FAN ; Jingsi LUO ; Chuan LI
Publication Type:Journal Article
Keywords: growth retardation; chromosome abnormality; single nucleotide polymorphism arrays
From: Journal of Clinical Pediatrics 2014;(12):1119-1121
CountryChina
Language:Chinese
Abstract: Objective To investigate the genetic basis of the children with growth retardation. Methods From January to October 2013, the 56 patients with growth retardation were enrolled in this study. Genomic DNA was extracted from peripheral blood and was analyzed with gene array chips. Results Abnormalities were found in 12 patients (6 cases of sex chromosome abnormalities and 6 cases of autosomal aberration) and the detection rate was 21.4%. Four patients had the copy-number variations of smaller than 2.5Mb in size which could not be found by karyotyping analysis. Conclusions SNP-array gene chip could be used in the genetic diagnosis of growth retardation.