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Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation

Mosaic trisomy 17 is rare with only 28 cases reported and the clinical presentation is highly variable. The diagnosis is most commonly made by prenatal karyotype and in most cases is followed by a normal postnatal karyotype on blood lymphocytes. We present two cases of mosaic trisomy 17 diagnosed pr...

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Détails bibliographiques
Auteurs principaux: Daber, Robert D., Chapman, Kimberly A., Ruchelli, Eduardo, Kasperski, Stefanie, Mulchandani, Surabhi, Thiel, Brian D., Hakonarson, Hakon, Zackai, Elaine H., Conlin, Laura K., Spinner, Nancy B.
Format: Artigo
Langue:Inglês
Publié: 2011
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3197730/
https://ncbi.nlm.nih.gov/pubmed/21998853
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