Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region. The predominant genetic defects in PW are 15q 11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy. In co...

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Bibliographic Details
Main Authors: João M. de Pina-Neto, Victor Evangelista F. Ferraz, Greice Andreotti de Molfetta, Jess Buxton, Sarah Richards, Sue Malcolm
Format: Article
Language:English
Published: Thieme Revinter Publicações 1997-06-01
Series:Arquivos de Neuro-Psiquiatria
Subjects:
genética médica
deficiência mental
síndrome de Prader-Willi
síndrome de Angelman
genética molecular
PCR (polymerase chain reaction)
Southern blot
medical genetics
mental retardation
Prader-Willi syndrome
Angelman syndrome
molecular genetics
PCR (polymerase chan reaction)
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1997000200006
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