Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

ABSTRACT:

Objectives

Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis.

Methods

Between March 2006 and September 2007, 638 neonates with various birth defects were referred for chromosomal microarray analysis. Three consecutive chromosomal microarray analysis versions were used: bacterial artificial chromosome-based versions V5 and V6 and bacterial artificial chromosome emulated oligonucleotide-based version V6 Oligo. Each version had targeted but increasingly extensive genomic coverage and interrogated>150 disease loci with enhanced coverage in genomic rearrangement-prone pericentromeric and subtelomeric regions.

Results

Overa

SUBMITTER: Lu XY 

PROVIDER: S-EPMC2795566 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature