一例罕见的涉及15号和22号染色体的嵌合不平衡非罗伯逊易位单卵双胞胎先天性异常病例。

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

作者信息

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

机构信息

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

出版信息

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

DOI:10.1159/000505004

PMID:32021606

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6995972/

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.

摘要

平衡性新生非罗伯逊易位（非RTs）涉及近端着丝粒染色体，在临床细胞遗传学中是罕见发现，可能与异常表型相关。通过传统核型分析检测到的这些易位，在大约每1000名新生儿中出现1例。在大多数此类病例中，父母一方携带相同的易位。在本研究中，我们报告了一例罕见的涉及15号和22号染色体的非RT，定义为45, XX, -22,der(15;22)t(15;22)/46, XX, der(15)t(15;22),der(22)。据我们所知，这是首次报道具有这些断点的非RT t(15;22)。