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A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins.
Molecular Syndromology ( IF 0.9 ) Pub Date : 2019-12-21 , DOI: 10.1159/000505004
Emine I Atli 1 , Engin Atli 1 , Sinem Yalcintepe 1 , Hakan Gurkan 1
Affiliation  

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.

中文翻译:

罕见的单卵双胞胎中涉及染色体15和22与先天性异常的马赛克非平衡非罗伯逊易位。

平衡的从头到尾非罗伯逊式易位(non-RTs),涉及到acrocentric染色体,是临床细胞遗传学中罕见的发现,并且可能与异常表型有关。通过常规核型分析检测到的这些易位,大约存在于1:1,000的新生儿中。在大多数情况下,其中一位父母携带相同的易位。在这项研究中,我们报告了一种罕见的非RT,涉及染色体15和22,它们定义为45,XX,-22,der(15; 22)t(15; 22)/ 46,XX,der(15)t(15; 22),der(22)。据我们所知,这是具有这些断点的非RT t(15; 22)的首次报告。
更新日期:2019-12-21
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