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Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
A 4.3 Mb duplication of chromosome 21 bands q22.13–q22.2 was diagnosed by interphase fluorescent in situ hybridisation (FISH) in a 31 week gestational age baby with cystic hygroma and hydrops; the duplication was later found in the mother and in her 8-year-old daughter. All had the facial gestalt of...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3027932/ https://ncbi.nlm.nih.gov/pubmed/21686961 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.05.2009.1914 |
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