A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins

摘要

Balanced de novo non-robertsonian translocations (non-RTs), which involve acrocentric chromosomes, are rare findings in clinical cytogenetics and may be associated with an abnormal phenotype. These translocations, detected by conventional karyotyping, are found in approximately 11,000 neonates. In most of these cases, one of the parents carries the same translocation. In this study, we report a rare non-RT involving chromosomes 15 and 22 defined as 45,XX,-22,der(15;22)t(15;22)/46,XX,der(15)t(15;22),der(22). To our knowledge, this is the first report of a non-RT t(15;22) with these breakpoints.