Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

ABSTRACT:

Background

Using array techniques, it was recently shown that about 10% of patients with mental retardation of unknown origin harbour cryptic chromosomal aneusomies. However, data analysis is currently not standardised and little is known about its sensitivity and specificity.

Methods

We have developed an electronic data analysis tool for gene-mapping SNP arrays, a software tool that we call Copy Number Variation Finder (CNVF). Using CNVF, we analysed 104 unselected patients with mental retardation of unknown origin with a genechip mapping 100K SNP array and established an optimised set of analysis parameters.

Results

We detected deletions as small as 20 kb when covered by at least three single-nucleotide polymorphisms (SNPs) and duplications as small as 150 kb when c

SUBMITTER: Hoyer J 

PROVIDER: S-EPMC2597959 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature