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Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : Lab Med
Source : Lab Med, Volume 47, Issue 2, p.171-5 (2016)
Url : https://www.ncbi.nlm.nih.gov/pubmed/27069036
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2016
Abstract : BACKGROUND: Microdeletions of the 7q11.23 Williams-Beuren syndrome chromosome region (WBSCR) are reported with a frequency of 1 in 10,000, whereas microduplications of the region, although expected to occur at the same frequency, are not widely reported.METHOD: We evaluated a 9-year old Omani boy for idiopathic intellectual disability using genetic methods, including multiplex ligation-dependent probe amplification (MLPA), for detection of microdeletions (P064-B3)./ppbRESULTS: /bMLPA analysis revealed that the boy has a rare microduplication of the WBSCR. Prominent clinical features include global developmental delay with pronounced speech delay, dysmorphic facies, and autistic features.CONCLUSION: Microduplications, in general, are reported at a lesser frequency, perhaps owing to their milder phenotype. Complete genetic assessment in children with idiopathic intellectual disability would help in identifying rare conditions such as duplication of the WBSCR.
Cite this Research Publication : S. Mohan, Nampoothiri, S., Yesodharan, D., Venkatesan, V., Koshy, T., Paul, S. F. D., and Perumal, V., “Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.”, Lab Med, vol. 47, no. 2, pp. 171-5, 2016.