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Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6

机译：环形染色体6患者的Array-CGH表征和基因型-表型分析

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Background Ring chromosome 6 is a rare constitutional abnormality that generally occurs de novo . The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of the chromosome is lost. The severity of the phenotype seems to be related to the size of the deletion. About 25 cases have been described to date, but the vast majority reports only conventional cytogenetic investigations. Case presentation Here we present an accurate cyto-molecular characterization of a ring chromosome 6 in a 16-months-old Caucasian girl with mild motor developmental delay, cardiac defect, and facial anomalies. The cytogenetic investigations showed a karyotype 46,XX,r(6)(p25q27) and FISH analysis revealed the absence of the signals on both arms of the chromosome 6. These results were confirmed by means of array-CGH showing terminal deletions on 6p25.3 (1.3?Mb) and 6q26.27 (6.7?Mb). Our data were compared to current literature. Conclusions Our report describes the case of a patient with a ring chromosome 6 abnormality completely characterized by array CGH which provided additional information for genotype-phenotype studies.
机译：背景环6号染色体是一种罕见的体质异常，通常从头发生。相关的表型可能变化很大，范围从几乎正常的表型到严重的畸形和智力低下。这些特征主要在染色体末端的遗传物质丢失时出现。表型的严重程度似乎与缺失的大小有关。迄今为止已描述了约25例，但绝大多数只报道了常规的细胞遗传学研究。病例介绍在这里，我们介绍了一个16个月大的白人女孩中，环形染色体6的准确细胞分子特征，该女孩患有轻度的运动发育延迟，心脏缺陷和面部异常。细胞遗传学研究显示核型46，XX，r（6）（p25q27），FISH分析表明在6号染色体的两个臂上都没有信号。这些结果通过array-CGH的方法证实，显示6p25的末端缺失。 3（1.3？Mb）和6q26.27（6.7？Mb）。我们的数据与现有文献进行了比较。结论我们的报告描述了一例完全由阵列CGH表征的6号环染色体异常的患者，这为基因型-表型研究提供了更多信息。

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