Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso

Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

Cintia Fridman Fernando Kok Aron Diament Célia P. Koiffmann Sobre os autores

Resumos

Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleção do segmento 15q11ql3 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.

síndrome de Angelman; cromossomo 15; imprinting genômico


The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome.

Angelman syndrome; chromosome 15; genomic imprinting


Síndrome de Angelman: causa frequentemente não reconhecida de deficiência mental e epilepsia. relato de caso

Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

Cintia FridmanI; Fernando KokII; Aron DiamentIII; Célia P. KoiffmannIV

IUnidade de Aconselhamento Genético do Departamento de Biologia do Instituto de Biociências da Universidade de São Paulo (IBUSP): Mestre em Biologia/Genética

IIServiço de Neurologia Infantil da Clínica Neurológica do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP): Médico Assistente

IIIServiço de Neurologia Infantil da Clínica Neurológica do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP): Chefe do Serviço

IVUnidade de Aconselhamento Genético do Departamento de Biologia do Instituto de Biociências da Universidade de São Paulo (IBUSP): Professor Doutor

RESUMO

Os autores descrevem um caso típico de síndrome de Angelman. A paciente apresenta atraso de desenvolvimento neuropsicomotor, deficiência mental, macrostomia, dentes espaçados, convulsões, ausência de fala, andar com a base alargada e instável, crises de risos. Os estudos citogenéticos e moleculares revelaram deleção do segmento 15q11ql3 de origem materna, confirmando o diagnóstico clínico de síndrome de Angelman.

Palavras-chave: síndrome de Angelman, cromossomo 15, imprinting genômico.

ABSTRACT

The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome.

Key-words: Angelman syndrome, chromosome 15, genomic imprinting.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

AGRADECIMENTOS

O presente trabalho foi realizado com suporte financeiro da FAPESP e do CNPq.

Aceite: 28-fevereiro-1997.

Cintia Fridman - Unidade de Aconselhamento Genético, IBUSP - Caixa Postal 11461 - 05422-970 São Paulo SP - Brasil. E-mail: cfiidman@usp.br

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Datas de Publicação

  • Publicação nesta coleção
    10 Nov 2010
  • Data do Fascículo
    Jun 1997
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