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首页> 外文期刊>Molecular cytogenetics >Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15
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Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

机译：环染色体15例中复复重排列的分子特征及评价

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Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic material. The proband, a 2 months old boy, presented with small head size and facial dysmorphism. On examination microcephaly, triangular face, small anterior frontanelle, micrognathia, hypotonia, unilateral simian crease, hypertelorism, umbilical hernia, micropenis with mild phimosis were noted. Karyotype revealed 46,XY,r(15)(p11.2q26). Array-comparative genomic hybridization (aCGH) and targeted gene sequencing for microcephaly was carried out for genotype phenotype correlation. Array-CGH detected a 2.8?Mb terminal deletion at 15q26.3 along with a 496?kb interstitial micro-duplication, encompassing the IGF1R gene, in the affected genomic region, which was otherwise missed on conventional karyotype. The present study highlights the importance of aCGH in not only delineating specific phenotypes through accurate genotypic correlation but also in detection and evaluation of ring chromosome with unexpected complex rearrangements.
机译：环染色体15是一种罕见的遗传实体。仅报告了使用分子技术表征的少数案例。由于断点的差异，临床介绍是相当变化的，因此涉及缺失的段/ s的基因的单速度，使镶嵌水平和环不稳定性导致遗传物质重排的可变性。概念，一个2个月大的男孩，呈现出小的头部尺寸和面部钝象。在考试微骨头，三角形面，小前前线，Micrognathia，低呼吸腹，单侧猿猴折痕，高度兴奋，脐疝，微直接与轻度皮肤病。核型显示46，XY，R（15）（P11.2Q26）。进行阵列对比基因组杂交（ACGH）和靶向基因测序的微骨蛋白术争，用于基因型表型相关性。 Array-CGH在15Q26.3中检测到2.8？MB末端删除，以及496 kB间质微复制，包括IGF1R基因，在受影响的基因组区域中，否则错过常规核型。本研究强调了ACGH不仅通过精确的基因型相关性描绘特异性表型，而且在具有意想不到的复杂重排的环染色体的检测和评估中，不仅可以描绘特异性表型。

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