Includes bibliographical references (p. -84) and index.
|Statement||Mohammed Rachidi and Carmela Lopes.|
|LC Classifications||RC571 .R33 2008|
|The Physical Object|
|Pagination||94 p. :|
|Number of Pages||94|
|LC Control Number||2007050448|
Abstract and Figures Down syndrome (DS), the most frequent genetic disorder leading to mental retardation (MR), is caused by three copies of human chromosome 21 (HC21). Trisomic and . Molecular mechanism model 1. Mental retardation: a major neurological disorder of Down syndrome Down syndrome (DS), affecting 1 in newborns, produces a variety of developmental anomalies in different organs involving dysmorphic features, immunological, haematological and endocrinal defects, and by: Its phenotype is highly complex with constant features, such as mental retardation, dysmorphic traits and hypotonia, and variable features including hear Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targetsCited by: Mitochondrial dysfunction in down syndrome: molecular mechanisms and Its phenotype is highly complex with constant features, such as mental retardation, dysmorphic traits and hypotonia, and variable features including heart defects, susceptibility to Alzheimer ’s.
Neurophysiological and functional information is needed to understand the mechanisms of mental retardation in Down's syndrome. The trisomy mouse models provide windows into the molecular and developmental effects associated with abnormal chromosome numbers. Molecular Mechanism of Mental Retardation in Down Syndrome cyqu No Comments cyqu No Comments. Molecular Mechanism of Mental Retardation in Down Syndrome. Entries RSS « » Molecular Mechanism of Mental Retardation in Down Syndrome. hexof. Molecular Genetic Medicine, Volume II, summarizes progress in several of the most important areas of modern molecular genetics and medicine. The chapters deal with ancient and common genetic diseases, a new infectious disease that threatens to become a world-wide scourge for all of humanity, and two of the most important and still poorly understood causes of mental retardation.
Down syndrome (DS), caused by a genomic imbalance of human chromosome 21 (HSA21), is mainly observed as trisomy 21 and is the major genetic cause of mental retardation (MR). MR and associated neurological and behavioural alterations result from dysregulation in critical HSA21 genes and associated molecular pathways. Mental retardation in Down syndrome: from gene dosage imbalance to molecular and cellular mechanisms. Rachidi M (1), Lopes C. Down syndrome (DS), the most frequent genetic disorder leading to mental retardation (MR), is caused by three copies of human chromosome 21 (HC21). Trisomic and transgenic mouse models for DS allow genetic dissection of DS neurological and cognitive disorders . This genetic mechanism is responsible for the wide variety of phenotypes in recessive X-linked diseases in heterozygous girls, as the inactivation of the mutant allele occurs randomly. 6 In case of the fragile X syndrome, girls with the mutation tend to have milder clinical symptoms.8 Epidemiology of mental retardation. Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning.