Uncommon genetic syndromes and narrative production - Case Studies with Williams, Smith-Magenis and Prader-Willi Syndromes?
نویسندگان
چکیده
منابع مشابه
Imprinting in Angelman and Prader-Willi syndromes.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by deficiencies of gene expression from paternal or maternal chromosome 15q11-q13, respectively. Many advances have occurred during the past year. The gene for necdin was mapped in the PWS candidate region and found to be paternally expressed in mouse and human. The bisulfite method for analysis of methylation was established for...
متن کاملSocial Competence in Persons with Prader-Willi, Williams and Down's Syndromes
Background This study explores everyday social competence in the lives of persons with three genetic intellectual disability syndromes. Methods Using parent reports on the Social and Activity Competence domains of Achenbach’s Child Behavior Checklist (CBCL), socially competent behaviours were examined in 58 persons with Williams syndrome, 54 persons with Prader-Willi syndrome, and 65 persons wi...
متن کاملimprinting genes and genetic disorders: review on two prader-willi and angelman syndromes
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متن کاملTowards a molecular understanding of Prader-Willi and Angelman syndromes.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurological disorders that map to human chromosome 15q11-q13 and involve perturbations of imprinted gene expression. PWS is caused by a deficiency of paternal gene expression and AS is caused by a deficiency of maternal gene expression. Experiments in the last year have focused on molecular analysis of the human chromosoma...
متن کاملPrader-Willi and Angelman syndromes: sister imprinted disorders.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct complex disorders mapped to chromosome 15q11-q13. They both have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia. The behavioral and endocrine di...
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ژورنال
عنوان ژورنال: International Journal of Developmental Disabilities
سال: 2012
ISSN: 2047-3869,2047-3877
DOI: 10.1179/2047387711y.0000000008