HM Luk, IFM Lo

Abstract

15q duplication syndrome (OMIM #608636) is a neurodevelopmental disease that characterised by hypotonia, developmental delay, intellectual disability, epilepsy and distinctive facial gestalt. A territory-wide study of 15q duplication syndrome is performed in Hong Kong with aim to examine its clinical and molecular features among Chinese patients. There are total of 12 cytogenetically and molecularly confirmed individuals between the period of January 2011 and December 2015. Four of them have interstitial duplication and 8 of them have isodicentric chromosome 15. The prevalence of 15q duplication syndrome in 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 is more prevalent in our Chinese patients. However, no genotype-phenotype correlation can be demonstrated in this study. Conclusion: The prevalence and clinical features of 15q duplication syndrome patients in Hong Kong Chinese are comparable with other western populations. It is hope that by having the better understanding of its underlying pathomechanism and their genotype-phenotype correlation would lead to better management and genetic counselling for patient with 15q duplication syndrome.