منابع مشابه
"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 کاملChromosomal Abnormalities in Mental Retardation: Indian Experience
At a Tertiary Genetic Centre, children with mental retardation (MR) (also referred as intellectual disability) and associated developmental disabilities were investigated for genetic diagnosis which is important in prevention and genetic counseling while offering the risk of recurrence to the family. A prospective and retrospective cytogenetic study was conducted on 1760 MR cases for chromosoma...
متن کاملchromosomal abnormalities in idiopathic mental retardation patients at a charity center in hamadan, iran
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...
متن کاملThe use of genomic microarrays to study chromosomal abnormalities in mental retardation.
Mental retardation affects 2 to 3% of the US population. It is defined by broad criteria, including significantly subaverage intelligence, onset by age 18, and impaired function in a group of adaptive skills. A myriad of genetic and environmental causes have been described, but for approximately half of individuals diagnosed with mental retardation the molecular basis remains unknown. Genomic m...
متن کاملSubtelomeric rearrangements of dysmorphic children with idiopathic mental retardation reveal 8 different chromosomal anomalies.
Subtelomeric rearrangements are an important cause of both sporadic and familial idiopathic mental retardation (MR) and/or congenital malformation syndromes. We report on a cohort of 107 children with idiopathic MR and normal karyotype 450-550 band level by GTG banding screened for subtelomeric rearrangements by multiprobe fluorescence in situ hybridization (FISH). In these cases, five patients...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2010
ISSN: 1824-7288
DOI: 10.1186/1824-7288-36-17