Trisomy 20 mosaicism: a subtle phenotype

• Autor(a) principal: Medeiros,Inês
• Data de Publicação: 2018
• Outros Autores: Faria,Catarina, Carvalho,Fábia, Rocha,Miguel Gonçalves, Silva,Helena
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000300006
• topic: Mosaicism; phenotype; trisomy 20

Introduction: Trisomy 20 mosaicism is one of the most common cytogenetic abnormalities found in prenatal diagnosis. The outcome of these pregnancies is normal in most of the reported cases, but clinical implications of diagnosis and prognosis in a long term basis are not clear. Case report: The authors present a case of trisomy 20 mosaicism, with no prenatal diagnosis, followed-up for a period of 13 years, aiming to demonstrate the existence of a subtle phenotype, which represents a challenge in diagnosis. Discussion/Conclusion: No specific phenotype has been associated with the cytogenetic findings but certain features, although subtle, appear to be consistent.