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Genetic Dosage Compensation in a Family with Velo-cardio-facial/DiGeorge/22q11.2 Deletion Syndrome
Cytogenetic studies of a male child carrying the 22q11.2 deletion common in patients with velo-cardio-facial/DiGeorge syndrome revealed an unexpected rearrangement of the 22q11.2 region in his normal appearing mother. The mother carries a 3 Mb deletion on one copy and a reciprocal, similar sized dup...
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| Autores principales: | , , , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4081864/ https://ncbi.nlm.nih.gov/pubmed/21337693 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33861 |
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