Lucia Ballarati

TL;DR: Analysis of the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints finds that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes.

TL;DR: This first systematic molecular characterisation of de novo 13q deletions offers a karyotype–phenotype correlation based on detailed clinical studies and molecular determinations of the deleted regions, and confirms that patients lacking the 13q32 band are the most seriously affected.

TL;DR: CMA analysis can be considered a second‐tier diagnostic test to be used after standard karyotyping in selected groups of pregnancies, namely those with single (apparently isolated) or multiple ultrasound fetal abnormalities, those with chromosomal rearrangements, even if apparently balanced, and those with supernumerary marker chromosomes.

TL;DR: This work surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregnancy outcome.

TL;DR: The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself.