Genetics and pathophysiology of mental retardation
نویسندگان
چکیده
منابع مشابه
Genetics of Mental Retardation
because of its prevalence (ca. 2%), the few therapeutic options that are currently available, and the resulting life-long harm to the affected persons, their families, and society as a whole (1). Persons with an intelligence quotient (IQ) below 70 are considered mentally retarded; milder forms of mental retardation, with IQ between 50 and 70 (overall prevalence ca. 1.5%), are more common than m...
متن کامل[Genetics of mental retardation].
Mental retardation affects nearly 3 % of the population. The causes of these disorders are various and are often not identified. Recent advances focused on the molecular basis of mental retardation. Nearly half of mental retardation syndromes have a genetic origin and the description of molecular, cytogenetic and metabolic alterations in these disorders led to the development of diagnostic tool...
متن کاملThe genetics of mental retardation.
Genetic abnormalities frequently give rise to a mental retardation phenotype. Recent advances in resolution of comparative genomic hybridization and genomic sequence annotation has identified new syndromes at chromosome 3q29 and 9q34. The finding of a significant number of copy number polymorphisms in the genome in the normal population, means that assigning pathogenicity to deletions and dupli...
متن کاملThe Genetics of Mental Retardation
Mental retardation(MR) was defined by the World Health Organisation as an intelligent quotient (IQ)<70 that is accompanied by adaptive limitations in two or more key skills areas, before the age of 18. General intellectual functioning is expressed by IQ. Typically, in chil‐ dren younger than 5 years old who present delays in the attainment of developmental mile‐ stones at the expected age, the ...
متن کاملMolecular and comparative genetics of mental retardation.
Affecting 1-3% of the population, mental retardation (MR) poses significant challenges for clinicians and scientists. Understanding the biology of MR is complicated by the extraordinary heterogeneity of genetic MR disorders. Detailed analyses of >1000 Online Mendelian Inheritance in Man (OMIM) database entries and literature searches through September 2003 revealed 282 molecularly identified MR...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2006
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201595