| Literature DB >> 32021606 |
Emine I Atli1, Engin Atli1, Sinem Yalcintepe1, Hakan Gurkan1.
Abstract
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 1:1,000 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.Entities:
Keywords: Array CGH; Autism; Chromosomal microarray analysis; Copy number variations; Deletion syndrome; Dysmorphology; FISH; Genotype-phenotype correlation; Mosaicism
Year: 2019 PMID: 32021606 PMCID: PMC6995972 DOI: 10.1159/000505004
Source DB: PubMed Journal: Mol Syndromol ISSN: 1661-8769