Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study
| Autor: | Mundhofir, F.E.P., Nillesen, W.M., Bon, B.W.M. van, Smeets, D., Pfundt, R.P., Ven-Schobers, G. van de, Ruiterkamp-Versteeg, M., Winarni, T.I., Hamel, B.C.J., Yntema, H.G., Faradz, S.M.H. |
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| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Indian Journal of Human Genetics, 19, 2, pp. 171-8 Indian Journal of Human Genetics, 19, 171-8 |
| ISSN: | 0971-6866 |
| Popis: | Contains fulltext : 124659.pdf (Publisher’s version ) (Open Access) CONTEXT: Unbalanced subtelomeric chromosomal rearrangements are often associated with intellectual disability (ID) and malformation syndromes. The prevalence of such rearrangements has been reported to be 5-9% in ID populations. AIMS: To study the prevalence of subtelomeric rearrangements in the Indonesian ID population. MATERIALS AND METHODS: We tested 436 subjects with unexplained ID using multiplex ligation dependent probe amplification (MLPA) using the specific designed sets of probes to detect human subtelomeric chromosomal imbalances (SALSA P070 and P036D). If necessary, abnormal findings were confirmed by other MLPA probe kits, fluorescent in situ hybridization or Single Nucleotide Polymorphism array. RESULTS: A subtelomeric aberration was identified in 3.7% of patients (16/436). Details on subtelomeric aberrations and confirmation analyses are discussed. CONCLUSION: This is the first study describing the presence of subtelomeric rearrangements in individuals with ID in Indonesia. Furthermore, it shows that also in Indonesia such abnormalities are a prime cause of ID and that in developing countries with limited diagnostic services such as Indonesia, it is important and feasible to uncover the genetic etiology in a significant number of cases with ID. |
| Databáze: | OpenAIRE |
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