Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.

Fridman, C; Varela, M C; Nicholls, R D; Koiffmann, C P

Fridman, C; Varela, M C; Nicholls, R D; Koiffmann, C P.

Afiliação

Fridman C; Department of Biology, Institute of Bioscience, University of São Paulo, SP, Brazil. cfridman@usp.br

Clin Genet ; 54(4): 303-8, 1998 Oct.

Article em En | MEDLINE | ID: mdl-9831341

RESUMO

We had previously described a patient with an overgrowth syndrome and the chromosome constitution 45,XY,t(15q15q) (Wajntal et al., DNA Cell Biol 1993: 12: 227-231). Clinical reassessment and the use of molecular studies, including methylation analysis with an SNRPN probe, microsatellite analyses of D15S11, GABRB3 and D15S113 loci, and fluorescence in situ hybridization (FISH) using the SNRPN and GABRB3 probes, are consistent with a diagnosis of Angelman syndrome (AS) due to paternal isodisomy. This is the fourth report case of a translocation 15q15q with paternal uniparental disomy (UPD). Our findings suggest that some patients with clinical features of AS have hyperphagia and obesity with overgrowth, and that these features should not rule out a diagnosis of AS.

Assuntos

Síndrome de Angelman/genética; Cromossomos Humanos Par 15/genética; Impressão Genômica; Síndrome de Angelman/patologia; Criança; Pré-Escolar; Pai; Humanos; Hibridização in Situ Fluorescente; Masculino; Translocação Genética

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 15 / Síndrome de Angelman / Impressão Genômica Limite: Child / Child, preschool / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 1998 Tipo de documento: Article País de afiliação: Brasil País de publicação: Dinamarca

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