Shruthi Mohan 1 , Sheela Nampoothiri 2 , Dhanya Yesodharan 2 , Vettriselvi Venkatesan 1 , Teena Koshy 1 , Solomon F D Paul 1 , Venkatachalam Perumal 3 Show Affiliations »
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 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. © American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
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 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. © American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Entities: Disease
Species
Keywords:
7q11.23; Williams-Beuren syndrome; intellectual disability; microduplication; multiplex ligation-dependent probe amplification; speech delay
Mesh： See more »
Year: 2016
PMID： 27069036 DOI： 10.1093/labmed/lmw005
Source DB: PubMed Journal: Lab Med ISSN： 0007-5027