Cryptic Rearrangements in Idiopathic Intellectual Disability Diagnosed by Molecular Cytogenetic Analysis
| Autor: | Mouna Turki, Fatma Kamoun, Kamel Jamoussi, Foued Haj Salama, Abdelhedi Miled, Fahmi Nasrallah, Ali Saad, Habiba Chaabouni, Meriam Messeddi, Ahmed Sahloul Essoussi, Ben Dridi, Soumaya Mougou, M. Chaabouni, Henda Chahed, Elyes Chabchoub, Haifa Sanhaji, Hatem Elghezal, Houda Ben Othman, Faouzi Maaloul, Hela Ben Khelifa, Hassen Kamoun, E. Ellouz, Inesse Ben Abdallah Bouhjar, Salima Ferchichi, Jihene Bouguila, Marie Françoise, A. Achour, Hend Ben Khelifa, Lamia Ben Jemaa, Fatma Ayedi, Ramzi Zemni, Moez Gribaa, Lamia Boughamoura |
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| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | INTERNATIONAL JOURNAL OF HUMAN GENETICS. 12 |
| ISSN: | 2456-6330 0972-3757 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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