Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

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dc.contributor.authorMundhofir, Farmaditya E P
dc.contributor.authorNillesen, Willy M
dc.contributor.authorBon, Bregje W M Van
dc.contributor.authorSmeets, Dominique
dc.contributor.authorPfundt, Rolph Ven-Schobers Gaby van de
dc.contributor.authorRuiterkamp-Versteeg, Martina
dc.contributor.authorWinarni, Tri I
dc.contributor.authorHamel, Ben C J
dc.contributor.authorYntema, Helger G
dc.contributor.authorFaradz, Sultana M H
dc.date.accessioned2013-11-20T08:14:58Z
dc.date.available2013-11-20T08:14:58Z
dc.date.issued2013-04
dc.description.abstractCONTEXT: 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.en_US
dc.identifier.citationMundhofir Farmaditya E P, Nillesen Willy M, Bon Bregje W M Van, Smeets Dominique, Pfundt Rolph Ven-Schobers Gaby van de, Ruiterkamp-Versteeg Martina, Winarni Tri I, Hamel Ben C J, Yntema Helger G, Faradz Sultana M H. Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study. Indian Journal of Human Genetics. 2013 Apr; 19(2): 171-178.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/149425
dc.language.isoenen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3758723/?report=classicen_US
dc.subjectIndonesiaen_US
dc.subjectintellectual disabilityen_US
dc.subjectmultiplex ligation dependent probe amplificationen_US
dc.subjectsubtelomeric rearrangementsen_US
dc.subject.meshChromosome Aberrations --genetics
dc.subject.meshCohort Effect
dc.subject.meshFemale
dc.subject.meshGene Rearrangement
dc.subject.meshHumans
dc.subject.meshIndonesia
dc.subject.meshIntellectual Disability --epidemiology
dc.subject.meshIntellectual Disability --etiology
dc.subject.meshIntellectual Disability --genetics
dc.subject.meshMale
dc.subject.meshMultiplex Polymerase Chain Reaction --methods
dc.subject.meshTelomere --genetics
dc.titleSubtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.en_US
dc.typeArticleen_US
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