Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

• Autorzy: Powis Z , Erickson R P
• Języki publikacji: EN

Abstrakty

EN

Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2009
• Tom: 50
• Numer: 3
• Opis fizyczny: p.293-296,fig.,ref.

Twórcy

autor

Powis Z

• Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, 1501 N. Cambell Avenue, P.O. Box 245073, Tucson, AZ 85724-5073, USA

autor

Erickson R P

• Department of Molecular and Cellular Biology, University of Arizona, Tucson, Arizona, USA

Bibliografia

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