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Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.

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.

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