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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Cryptic rearrangements in idiopathic intellectual disability diagnosed by molecular cytogenetic analysis
International Journal of Human Genetics, Volume 12, No. 3, Year 2012
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Description
With the development of molecular cytogenetic techniques, it is possible to identify cryptic rearrangements involving the end of chromosomes. Subtelomeric chromosomal rearrangements represent a significant cause of idiopathic intellectual disability accounting for 6-10% of moderate to severe cases and 0.5% in individuals with mild intellectual disability. We investigated 50 patients with severe intellectual disability combined with a dysmorphic features and normal 400-550 band karyotype for unbalanced subtelomeric rearrangements by using fluorescence in situ hybridization with probes mapping to forty one telomeric-specific regions. Nine positive cases (18%) were found. Six were de novo deletions (1p, 2q, 6p, 9q, 10q, 22q) and one wasis de novo duplication (10q).Two unbalanced translocation (a der(3)t(3p; 2q) and a der(3)t(3p; Xq)) were inherited from the balanced mothers. Our study supportsed the hypothesis that subtelomeric rearrangements are a significant cause of idiopathic intellectual disability. The clinical features of patients with subtelomeric abnormalities and the candidate genes proposed inside each region will help to better delineate the phenotype-genotype correlation. © Kamla-Raj 2012.
Authors & Co-Authors
Bouhjar, Inesse A.
Tunisia
Farhat Hached University Teaching Hospital
khelifa, Hela Ben
Tunisia
Farhat Hached University Teaching Hospital
Soyah, Najla
Tunisia
Farhat Hached University Teaching Hospital
Mougou, S.
Tunisia
Farhat Hached University Teaching Hospital
Gribaa, Moez
Tunisia
Farhat Hached University Teaching Hospital
Elghèzal, Hatem M.
Tunisia
Farhat Hached University Teaching Hospital
Saâd, Ali
Tunisia
Farhat Hached University Teaching Hospital
Statistics
Citations: 7
Authors: 7
Affiliations: 1
Identifiers
Doi:
10.1080/09723757.2012.11886178
ISSN:
09723757
Research Areas
Disability
Genetics And Genomics
Maternal And Child Health