Article
Expanding the phenotype of mosaic trisomy 20.
American journal of medical genetics. Part A - 1 Feb 2008
Willis Mary J H, Bird Lynne M, Dell'Aquilla Marie, Jones Marilyn C
Abstract excerpt
Mosaic trisomy 20 is one of the more common cytogenetic abnormalities found on amniocentesis or chorionic villus sampling. Studies have shown that outcome is normal in 90-93% of prenatally diagnosed cases. There are however, reports in the literature of children with mosaic trisomy 20 described as having an assortment of dysmorphic features and varying levels of developmental delay. Unfortunately, the literature...
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