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首页> 外文期刊>Hong Kong Journal of Paediatrics >The Clinical and Molecular Spectrum of 15q Duplication Syndrome in Chinese
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The Clinical and Molecular Spectrum of 15q Duplication Syndrome in Chinese

机译：中国人15q复制综合征的临床和分子谱

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摘要

15q duplication syndrome (OMIM #608636) is a neurodevelopmental disease that characterised byhypotonia, developmental delay, intellectual disability, epilepsy and distinctive facial gestalt. A territorywidestudy of 15q duplication syndrome is performed in Hong Kong with aim to examine its clinical andmolecular features among Chinese patients. There are total of 12 cytogenetically and molecularly confirmedindividuals between the period of January 2011 and December 2015. Four of them have interstitialduplication and 8 of them have isodicentric chromosome 15. The prevalence of 15q duplication syndromein our Chinese cohort with intellectual disability and autistic spectrum disease is estimated to be 1.0%and 2.9%, respectively. As compared with western population, epilepsy is less common while squint ismore prevalent in our Chinese patients. However, no genotype-phenotype correlation can be demonstratedin this study. Conclusion: The prevalence and clinical features of 15q duplication syndrome patients inHong Kong Chinese are comparable with other western populations. It is hope that by having the betterunderstanding of its underlying pathomechanism and their genotype-phenotype correlation would leadto better management and genetic counselling for patient with 15q duplication syndrome.
机译：15q复制综合征（OMIM＃608636）是一种神经发育疾病，其特征为低血压，发育迟缓，智力残疾，癫痫病和独特的面部格式塔。香港进行了一项全民15q重复综合征的研究，旨在检查其在中国患者中的临床和分子特征。在2011年1月至2015年12月之间，总共有12个经过细胞遗传学和分子学确认的个体。其中4个具有间质重复，其中8个具有等中心染色体15。在我国智障和自闭症患者中，15q复制综合征的患病率是估计分别为1.0％和2.9％。与西方人群相比，癫痫患者较少见，斜视在中国患者中更为普遍。然而，在这项研究中无法证明基因型与表型的相关性。结论：香港华人15q重复综合征患者的患病率和临床特征与其他西方人群相当。希望通过更好地了解其潜在的发病机制及其基因型与表型的相关性，可以为患有15q复制综合征的患者带来更好的管理和遗传咨询。

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