CGH + SNP Array

A new array technology, known as CGH+SNP array has been recently introduced in the field of molecular cytogenetics. This technology is able to detect not only copy number changes but also uniparental disomies (UPD) and loss of heterozygosity (LOH).

Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome or of part of a chromosome, from one parent and no copies from the other parent.

UPD often occurs as a random event during early fetal development as a consequence of corrections of trisomies or monosomies (trisomic rescue and monosomic rescue). Its occurrence increases with advanced maternal age.

Uniparental disomy or loss of heterozygosity may cause different types of pathologies both constitutional and acquired.