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Phenotype of partial trisomy 8 (p21 leads to qter) in two unrelated patients with de novo translocation.
Two unrelated patients with a de novo partial trisomy 8 (q21 leads to qter) are presented. They had strikingly similar phenotypes, characterised by a wide face with hypertelorism, a broad based nose, malformed ears, micrognathia, and a very short neck. A cleft palate, cardiac defects, and hydronephr...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1981
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1048706/ https://ncbi.nlm.nih.gov/pubmed/7241543 |
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