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- Title
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
- Authors
Mohan, Shruthi; Nampoothiri, Sheela; Yesodharan, Dhanya; Venkatesan, Vettriselvi; Koshy, Teena; Paul, Solomon F. D.; Perumal, Venkatachalam
- 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). Results: 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. Conclusion: Microduplications, in general, are reported ata 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.
- Subjects
PEOPLE with intellectual disabilities; PHENOTYPES; GENETIC testing; WILLIAMS syndrome; NUCLEIC acid amplification techniques; SYMPTOMS; CHILDREN; GENETICS
- Publication
Laboratory Medicine, 2016, Vol 47, Issue 2, p171
- ISSN
0007-5027
- Publication type
Article
- DOI
10.1093/labmed/lmw005