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. ...

Mental retardation is a complex, multifaceted condition. It is not a simple condition based primarily on intellectual capacities. Assessment of a retarded child should not be limited to intellectual functioning alone. It should give an idea of the individual's strength and weaknesses globally. Unfortunately, in India, assessment of mental retardation is still primarily based on intelligence tes...

We present a syndrome manifested in two half brothers and their two maternal aunts which is characterised in the two boys by severe mental retardation and craniofacial dysmorphism (broad, coarse features and marked plagiocephaly with flattened occiput), and in the aunts merely by moderate mental retardation without dysmorphic features. The brothers do not seem to fall into any previously descri...

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent for...

FMRP, or fragile X mental retardation protein is an RNA-binding protein. Mutations in the FMRP protein have been associated with neurological disease as have a number of its mRNA-binding targets. This SnapShot presents 40 bona fide FMRP targets for which mRNA binding and protein regulation have been robustly reported in mammals along with the diseases with which they have been associated.

background adaptation is an important process for humans. children, who are physically or mentally disabled, impose special stresses on their families, parents and in particular on their mothers. objectives this study examines the relationship between the characteristics of mothers who have educable mentally retarded children, and their adaptation based on roy’s adaptation model. patients and m...