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A case of partial (9p) trisomy in a family with a balanced translocation 46,XX,t(1p+9q-).
A case of partial trisomy 9 is described, conforming that this will produce a recognizable syndrome of a characteristic facies with deep-set eyes and an unusual shape of the nose. Failure of secondary sexual characteristics to develop appears to be a feature in adults. In this case the mother had a...
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| Udgivet i: | J Med Genet |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
1975
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013298/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1177287/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.12.3.310 |
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