نتایج جستجو برای: idiopathic mental retardation
تعداد نتایج: 333830 فیلتر نتایج به سال:
materials and methods a number of 100 patients with imr, normal karyotypes and negative fragile-x and metabolic tests were screened for subtelomeric abnormalities using mlpa technique. results nine of 100 patients showed subtelomeric abnormalities with at least one of the two mlpa kits. deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. ...
background chromosomal aberrations are one of the most common causes of mental retardation (mr). objectives in this study, in order to identify the rate of chromosomal abnormalities in idiopathic mr, 50 mr patients at a charity center in hamadan, iran, were investigated. methods fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., down syndrome, fragile x synd...
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...
Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. F...
We evaluated the presence or absence of informative morphogenetic variants in cases with mental retardation compared with mentally healthy subjects. Cases diagnosed with mental retardation were matched by age and sex with control subjects and examined for the presence of informative morphogenetic variants. The aim of the study was to investigate their prevalence and mean number in these subject...
INTRODUCTION Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with posi...
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...
Recently much attention has been given to the detection of submicroscopic chromosome rearrangements in patients with idiopathic mental retardation. We have screened 27 subjects with mental retardation and dysmorphic features for such rearrangements using a genetic marker panel screening. The screening was a pilot project using markers from the subtelomeric regions of all 41 chromosome arms. The...
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