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首页> 外文期刊>Case Reports in Genetics >Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly
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Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

机译：具有Ebstein异常和锁骨异常的15号染色体远端长臂的纯复制

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This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of theLINGO-1andCSPG4genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.
机译：该报告报道的是一位患有15q24-qter的纯三体症的患者，该患者表现出罕见的Ebstein异常和先前未报告的骨骼异常。染色体微阵列分析允许对三体性的程度进行高分辨率鉴定，并提供了实现高分辨率断点数据的手段。不平衡的染色体区域的表型表达是一种复杂的现象，而且如此处所述，对涉及区域的精细定位只是对其全面了解的第一步。 LINGO-1和CSPG4基因的过表达与其他15q24-qter三体性患者的发育延迟有关，但我们的患者目前太年轻，无法确定发育进展。根据我们的高分辨率剂量图，尚不清楚此处报道的Ebstein异常和骨骼异常的遗传基础。

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