História clínica de um indivíduo com cariótipo 45,X/47,XY,+21

Autores

  • Roseane Lopes da Silva-Grecco
  • Heloísa Marcelina da Cunha Palhares
  • Vera Lúcia Gil-da-Silva-Lopes
  • Marly Aparecida Spadotto Balarin

Palavras-chave:

Aneuploidia, Mosaicismo, Síndrome de Down, Síndrome de Turner

Resumo

Descreve-se a evolução clínica de um menino de 12 anos, avaliado inicialmente com 26 meses, por suspeita de síndrome de Down, apresentando sinais dismórficos, baixa estatura e leve atraso do desenvolvimento neuropsicomotor. As investigações cardíaca e renal foram normais. A análise cromossômica de linfócitos do sangue periférico e de fibroblastos de biópsia de pele mostrou mosaicismo 45,X/47,XY,+21. Trata-se da quinta descrição deste cariótipo no sexo masculino e a primeira abordando a história clínica do portador da alteração cromossômica.

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Publicado

2008-12-31

Como Citar

Silva-Grecco, R. L. da, Palhares, H. M. da C., Gil-da-Silva-Lopes, V. L., & Balarin, M. A. S. (2008). História clínica de um indivíduo com cariótipo 45,X/47,XY,+21. Revista De Ciências Médicas, 17(3/6). Recuperado de https://seer.sis.puc-campinas.edu.br/cienciasmedicas/article/view/758

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