平衡的从头非罗伯逊易位(非RTs),其中涉及到肢端染色体,是临床细胞遗传学中罕见的发现,可能与异常表型有关。这些易位,通过常规核型分析检测,在大约1:1,000的新生儿中发现。在大多数情况下,父母之一携带相同的易位。在这项研究中,我们报告了一个罕见的非RT涉及染色体15和22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RTt(15;22)的第一份报告。
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.