Article
The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues.
American journal of medical genetics. Part A - 15 Feb 2009
Papavassiliou Paulie, York Timothy P, Gursoy Nurcan, Hill Gloria, Nicely Lauren Vanner, Sundaram Usha, McClain Allison, Aggen Steven H, Eaves Lindon, Riley Brien, Jackson-Cook Colleen
Abstract excerpt
Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals having trisomy 21 mosaicism. To investigate a potential "threshold" effect due to trisomic imbalance, lymphocyte and buccal mucosa nuclei were scored using FISH....
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