Molecular aberration studies in cases of idiopathic mental retardation: An update
نویسندگان
چکیده
منابع مشابه
Cytogenetic Studies of Idiopathic Mental Retardation: A Report
A majority of subjects with mental retardation and congenital anomalies cannot be classified under any known malformation syndromes. Major problems in understanding the mechanisms involved in the production of this abnormal phenotype and consequently in providing accurate and informed genetic counseling are therefore challenging. The application of recently developed chromosome banding techniqu...
متن کامل"Idiopathic" mental retardation and new chromosomal abnormalities
Mental retardation is a heterogeneous condition, affecting 1-3% of general population. In the last few years, several emerging clinical entities have been described, due to the advent of newest genetic techniques, such as array Comparative Genomic Hybridization. The detection of cryptic microdeletion/microduplication abnormalities has allowed genotype-phenotype correlations, delineating recogni...
متن کاملSubtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular-cytogenetic methods.
AIM To identify cryptic subtelomeric rearrangement, a possible cause of idiopathic mental retardation by means of multiprobe telomere fluorescent in situ hybridization (T-FISH). METHODS Hundred patients (median age 3.0 years) with mental retardation and dysmorphic features were screened using specific T-FISH probes. Multiplex ligation-dependent probe amplification and comparative genomic hybr...
متن کاملGenetic studies of children with mental retardation
Genetic studies of children with mental retardation Saideh Rajaei Department of Medical and Clinical Genetics, Institute of Biomedicine The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden, 2013 Mental retardation (MR) is characterised by significant limitations in intellectual function and adaptive behaviour. It is estimated that MR affects up to 3% of the population ...
متن کاملSubtelomeric rearrangements detected in patients with idiopathic mental retardation.
A screening for submicroscopic rearrangements was performed in 111 patients with idiopathic mental retardation (MR) using fluorescence in situ hybridization (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic rearrangements were found (9%): five de novo deletions; one unbalanced de novo translocation; three unbalanced inherited translocations; and one unbalanced reco...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2013
ISSN: 0971-6866
DOI: 10.4103/0971-6866.116100