Trisomy 20 mosaicism – a subtle phenotype

Medeiros, Inês; Faria, Catarina; Carvalho, Fábia; Rocha, Miguel Gonçalves; Silva, Helena

http://hdl.handle.net/10400.16/3798

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Authors

Medeiros, Inês

Faria, Catarina

Carvalho, Fábia

Rocha, Miguel Gonçalves

Silva, Helena

Abstract(s)

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.

Keywords

Mosaicism phenotype trisomy 20

URI

http://hdl.handle.net/10400.16/3798

Citation

Medeiros I, Faria C, Carvalho F, Rocha MG, Silva H. Trisomy 20 mosaicism – a subtle phenotype. BGMJ [Internet]. 2018 Oct. 17 [cited 2025 Nov. 14];27(3):182-4. Available from: https://revistas.rcaap.pt/bgmj/article/view/11686