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

Emine I Atli; Engin Atli; Sinem Yalcintepe; Hakan Gurkan

doi:10.1159/000505004

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

Mol Syndromol. 2020 Jan;10(6):320-326. doi: 10.1159/000505004. Epub 2019 Dec 21.

Authors

Emine I Atli¹, Engin Atli¹, Sinem Yalcintepe¹, Hakan Gurkan¹

Affiliation

¹ Department of Medical Genetics, Faculty of Medicine, Trakya University, Edirne, Turkey.

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.

Keywords: Array CGH; Autism; Chromosomal microarray analysis; Copy number variations; Deletion syndrome; Dysmorphology; FISH; Genotype-phenotype correlation; Mosaicism.