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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 by the same method and confirm...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMJ Group
2007
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2598003/ https://ncbi.nlm.nih.gov/pubmed/17237124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047373 |
| Etiketak: |
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