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Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).
A child is described with a de novo interstitial deletion of band 2p22 and a reciprocal translocation (3;7)(p21;q22). The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease. The clinical and cytogenetic findings are described. IMAGES:
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| Publicado en: | J Med Genet |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Publishing Group
1988
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015455/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3346886/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.25.2.125 |
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