Somatic chromosomal mosaicism is defined as the presence of two or more chromosomally distinct cell lines and represents a challenging task not only to detect but also to interpret. Owing to various ...

A small supernumerary marker chromosome is often seen in patients with developmental disorders. Prior to array-based comparative genomic hybridization markers were rarely genotyped end to end. In this ...

Researchers have identified inherited genetic variants that may predict the loss of one copy of a woman's two X chromosomes as she ages, a phenomenon known as mosaic loss of chromosome X, or mLOX.