{Reference Type}: Journal Article
{Title}: Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
{Author}: Mohan S;Nampoothiri S;Yesodharan D;Venkatesan V;Koshy T;Paul SF;Perumal V;
{Journal}: Lab Med
{Volume}: 47
{Issue}: 2
{Year}: May 2016
{Factor}: 1.865
{DOI}: 10.1093/labmed/lmw005
{Abstract}: <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.<BR><B>METHODS: </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).<BR><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.<BR><B>CONCLUSIONS: </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.