Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.

Abstract

OBJECTIVE:

The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH) to detect microdeletions and microduplications in congenital conotruncal defects (CTDs), especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3.

METHODS:

Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA), 10 double-outlet right ventricle (DORV), 3 transposition of great arteries (TGA), 1 tetralogy of Fallot (TOF) and one ventricular septal defect (VSD), were enrolled in this study and screened for pathogenic copy number variations (CNVs), using Agilent 8 x 15K targeted aCGH. Real-time quantitative polymerase chain reaction (qPCR) was performed to test the molecular results of targeted aCGH.

RESULTS:

Four of 27 patients (14.8%) had 22q11.2 CNVs, 1 microdeletion and 3 microduplications. qPCR test confirmed the microdeletion and microduplication detected by the targeted aCGH.

CONCLUSION:

Chromosomal abnormalities were a well-known cause of multiple congenital anomalies (MCA). This aCGH using arrays with high-density coverage in the targeted regions can detect genomic imbalances including 22q11.2 and other 10 kinds CNVs effectively and quickly. This approach has the potential to be applied to detect aneuploidy and common microdeletion/microduplication syndromes on a single microarray.

• Authors: Xiaohui Gong, Xi Wu, Xiaojing Ma, Dandan Wu, Ting Zhang, Li He, Shengying Qin, Xiaotian Li
• Journal: PloS one (PLoS One) Vol. 8 Issue 10 Pg. e76314 ( 2013) ISSN: 1932-6203 [Electronic] United States
• PMID: 24098474 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Asian People
• China
• Chromosome Aberrations
• Chromosome Deletion
• Chromosome Duplication
• Comparative Genomic Hybridization (methods)
• Female
• Heart Defects, Congenital (diagnosis, genetics)
• Humans
• Male
• Nucleic Acid Amplification Techniques (methods)
• Phenotype
• Real-Time Polymerase Chain Reaction (methods)