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首页> 外文期刊>Molecular cytogenetics >Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event
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Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

机译：复杂的重排中纯净的16q21q22.1缺失可能是由色杆菌病事件引起的

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Background Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo rearrangement possibly resulting from a chromothripsis event. Results The patient presented with low birth weight, microcephaly, developmental delay, facial dysmorphisms, short stature, dysmorphic ears and cardiopathy. Standard and molecular cytogenetics showed a complex rearrangement characterised by a pericentromeric inversion in one of chromosomes 12 and an inverted insertional translocation of the 12q14q21.1 region, from the rearranged chromosome 12, into the q21q22.1 tract of a chromosome 16. Array-CGH analysis unravelled a partial 16q21q22.1 monosomy, localised in the rearranged chromosome 16. Conclusions The comparison of the present case to other 16q21q22 monosomies contributed to narrow down the critical region for cardiac anomalies in the 16q22 deletion syndrome. However, more cases, well characterised both for phenotypic signs and genomic details, are needed to further restrict candidate regions for phenotypic signs in 16q deletions. The present case also provided evidence that a very complex rearrangement, possibly caused by a chromothripsis event, might be hidden behind a classical phenotype that is specific for a syndrome.
机译：背景技术16q号染色体的部分单性体很少见，复杂的染色体重排产生的重叠效应通常会阻碍此类不平衡的基因型与表型的相关性。在这里，我们报告一个男孩的分离的部分单倍体16q21q22.1的临床特征，该男孩患有复杂的从头重排，可能是由色鳞病引起的。结果患者出现低出生体重，小头畸形，发育迟缓，面部畸形，身材矮小，耳朵畸形和心脏病。标准细胞遗传学和分子细胞遗传学显示复杂的重排，其特征在于12号染色体之一中的着着丝粒反转和12q14q21.1区的染色体插入重排，从重排的12号染色体到16号染色体的q21q22.1区域。Array-CGH分析揭示了部分16q21q22.1单体性，位于重组染色体16中。结论本病例与其他16q21q22单体性的比较有助于缩小16q22缺失综合征中心脏异常的关键区域。但是，需要更多的表型迹象和基因组细节都已充分表征的案例，以进一步限制16q缺失中表型迹象的候选区域。本案还提供了证据，表明可能由色霉病事件引起的非常复杂的重排可能隐藏在特定于综合征的经典表型后面。

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