Four-Copy Number Intervals in SNP Microarray Analysis: Unique Patterns and Positions.

Cytogenetic and genome research

PubMedID: 25401283

Papenhausen PR, Kelly CA, Zvereff V, Schwartz S. Four-Copy Number Intervals in SNP Microarray Analysis: Unique Patterns and Positions. Cytogenet Genome Res. 2014;92-103.
Over the past several years, the utility of microarray technology in delineating copy number changes has become well established. In the past 4 years, we have used the SNP array to detect and analyze allele ratios in 150 cases with 4-copy intervals, confirmed by FISH, offering insight into the underlying mechanisms of formation. These cases may be divided into 5 allele patterns - the first 4 of which involve a single homologue - as detected by the genotyping aspects of the microarray: (1) triplications combining homozygous and heterozygous alleles, with a 3:1 ratio of heterozygotes; (2) triplications with allele patterns combining homozygous and heterozygous alleles, with heterozygote ratios of both 3:1 and 2:2; (3) triplications that have homozygous alleles combined with only 2:2 heterozygous alleles; (4) triplications that are completely homozygous; and (5) homozygous duplications on each homologue with no heterozygous alleles. The implications of copy number variants with diverse allelic segregations are presented in this study. © 2014 S. Karger AG, Basel.