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Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.
A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the sho...
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| Опубликовано в: : | J Med Genet |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Publishing Group
1976
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013442/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1003448/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.13.5.366 |
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