Combined Cytogenetic and Molecular Analyses for the Diagnosis of Prader-Willi/Angelman Syndromes

Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS) or maternal (AS) 15q11-q13 chromosome. Diagnosis on a clinical basis is difficult in newborns and young infantsthus, a suitable molecular te...

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Published inJournal of biochemistry and molecular biology Vol. 37; no. 5
Main Authors Borelina, Daniel;Engel, Nora;Esperante, Sebastian;Ferreiro, Veronica;Szijan, Irene(Facultad de Farmacia y Bioquimica, UBA, Buenos Aires, Argentina)E-mail:iszijan@ffyb.uba.ar, Ferrer, Marcela(Instituto de Neurociencias Aplicadas, UBA, Buenos Aires, Argentina), Torrado, Maria;Goldschmidt, Ernesto;Francipane, Liliana(Hospital Jose de San Martin, Buenos Aires, Argentina)
Format Journal Article
LanguageEnglish
Subjects
Deletions
METHYLATION
Methylation test
METILACION
Prader-Willi/Angelman syndromes
SINTOMAS
SYMPTOME
SYMPTOMS
Uniparental disomy
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Summary:Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS) or maternal (AS) 15q11-q13 chromosome. Diagnosis on a clinical basis is difficult in newborns and young infantsthus, a suitable molecular test capable of revealing chromosomal abnormalities is required. We used a variety of cytogenetic and molecular approaches, such as, chromosome G banding, fluorescent in situ hybridization, a DNA methylation test, and a set of chromosome 15 DNA polymorphisms to characterize a cohort of 27 PWS patients and 24 suspected AS patients.
Bibliography:T10
2005010380
ISSN:1225-8687
0219-1024