Cindy Melotte

TL;DR: In this article, a new array-based method allowed screening of genome-wide copy number and loss of heterozygosity in single cells, which revealed not only mosaicism for whole-chromosome aneuploidies and uniparental disomies in most cleavage-stage embryos but also frequent segmental deletions, duplications and amplifications that were reciprocal in sister blastomeres, implying the occurrence of breakage-fusion-bridge cycles.

TL;DR: This study establishes that chromosome instability is also common during early human embryogenesis and identifies post-zygotic chromosome instability as a leading cause of constitutional chromosomal disorders.

TL;DR: The extrachromosomal (episomal) amplification of ABL1 in 5 of 90 individuals with T-ALL, an aberration that is not detectable by conventional cytogenetics, is described and a previously undescribed mechanism for activation of tyrosine kinases in cancer: the formation of episomes resulting in a fusion between NUP214 and A BL1 is identified.

TL;DR: The parameters that were critical for successful implementation of array CGH are reported on, quality criteria is assessed, and the potential benefits and pitfalls of the technology for improved pre- and postnatal constitutional genetic diagnosis are discussed.