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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: Alkalay, Avishai A., Guo, Tingwei, Montagna, Cristina, Digilio, M. Cristina, Marino, Bruno, Dallapiccola, Bruno, Morrow, Bernice
Formato: Artigo
Lenguaje:Inglês
Publicado: 2011
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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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