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A case of partial monosomy 21q22.2 associated with Rieger's syndrome.
A deleted chromosome 21 is reported in a mentally retarded girl with prominent occiput, high nasal bridge, downward slanting eyes, enophthalmus, atresia of the right lacrimal duct, displaced anal opening, and supernumerary ribs. Cytogenetic investigation of cultured lymphocytes and skin fibroblasts...
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| Hauptverfasser: | , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
1984
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1049271/ https://ncbi.nlm.nih.gov/pubmed/6431108 |
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