Publication Type:

Journal Article


Lab Med, Volume 47, Issue 2, p.171-5 (2016)


<p><b>BACKGROUND: </b>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.</p><p><b>METHOD: </b>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).</p><p><b>RESULTS: </b>MLPA 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.</p><p><b>CONCLUSION: </b>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.</p>

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.