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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
1997
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051005/ https://ncbi.nlm.nih.gov/pubmed/9222973 |
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