Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q.
Clin Genet
; 54(4): 303-8, 1998 Oct.
Article
em En
| MEDLINE
| ID: mdl-9831341
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 15
/
Síndrome de Angelman
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Impressão Genômica
Limite:
Child
/
Child, preschool
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Humans
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Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Dinamarca