SNP arrays have the added advantage of the ability to identify polyploidy and long stretches of homozygosity that may represent consanguinity or uniparental disomy, associated with a risk for ...

Translocations can be intra- or inter-chromosomal. Segmental uniparental disomy. Uniparental disomy describes the phenomenon in which a pair of homologous chromosomes in a diploid individual is ...

[Analysis of a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing]. [Discussion on the status quo and solutions to the prevention and ...

Purpose: Despite advances in harvesting and culturing techniques, analysis of the impact of these improvements on the observed frequency of chromosomal abnormalities in spontaneous abortions (SAB ...