Literature DB >> 32021606

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

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.
Copyright © 2019 by S. Karger AG, Basel.

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


  15 in total

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Authors:  D M McDonald-McGinn; M K Tonnesen; A Laufer-Cahana; B Finucane; D A Driscoll; B S Emanuel; E H Zackai
Journal:  Genet Med       Date:  2001 Jan-Feb       Impact factor: 8.822

10.  Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Authors:  Valeria Capra; Samantha Mascelli; Maria Luisa Garrè; Paolo Nozza; Carlotta Vaccari; Lara Bricco; Frédérique Sloan-Béna; Stefania Gimelli; Cristina Cuoco; Giorgio Gimelli; Elisa Tassano
Journal:  PLoS One       Date:  2013-03-06       Impact factor: 3.240

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