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A case of apparent trisomy 21 without the Down's syndrome phenotype.

We describe a case of apparent trisomy 21 that does not fulfill the criteria for the clinical diagnosis of Down's syndrome (DS). Our patient was subjected to karyotype analysis and found to have full, non-mosaic trisomy 21 in both blood lymphocytes and skin fibroblasts, while examination of the...

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Detalhes bibliográficos
Main Authors: Avramopoulos, D, Kennerknecht, I, Barbi, G, Eckert, D, Delabar, J M, Maunoury, C, Hallberg, A, Petersen, M B
Formato: Artigo
Idioma:English
Publicado em: 1997
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051005/
https://ncbi.nlm.nih.gov/pubmed/9222973
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