Diagnosis of one case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization
10.3969/j.issn.1000-3606.2014.08.015
- VernacularTitle:应用微阵列比较基因组杂交技术诊断7p15.3p22.1微缺失1例
- Author:
Wei PENG
;
Xiao YANG
;
Xin LIU
;
Honglin WU
;
Yan WANG
- Publication Type:Journal Article
- Keywords:
array-based comparative genomic hybridization;
7p15.3p22.1;
copy number variations;
karyotype;
cytogenetics
- From:
Journal of Clinical Pediatrics
2014;(8):757-759
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the diagnosis of a case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization (array-CGH) and to analyze the relationship between the clinical manifestations and 7p15.3p22.1 microdeletion. Method Array-CGH technique was used to detect genomic copy number variations (CNVs) in an infant with normal karyotype after conventional chromosomal karyotyping. Results Array-CGH detected 7p15.3p22.1 deletion (chr7: 6777262-23981753), which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion Array-CGH could serve as a useful complement for G-banding to be used in the clinical cytogenetic diagnosis.