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- W245062467 abstract "Abstract : There is currently no way to predict which patients with NF1 are at high risk for serious complications. We have undertaken an exploratory study of monozygotic (MZ) twins with NF1 who are discordant for various NF complications, and assessed for differences in copy number variations (CNV) in their DNA using genetic microarray technology. We are testing the hypothesis that MZ twin pairs with NF1 will have within-pair differences in CNVs that may explain their discordant NF complications. To date, we have enrolled and studied 10 pairs of MZ twins with NF1 and 12 parents. Preliminary data analysis shows a mean of 19.6 raw CNVs per twin pair, with no de novo CNVs and no discordancies in CNVs within twin pairs found in analysis of the first 5 twin sets. On average, 3.6 CNVs per twin pair contain genes, and could be candidates for modifiers of phenotype. Data analysis is continuing, with emphasis on genes located within CNVs that may affect clinical phenotype." @default.
- W245062467 created "2016-06-24" @default.
- W245062467 creator A5065177203 @default.
- W245062467 date "2011-10-01" @default.
- W245062467 modified "2023-09-24" @default.
- W245062467 title "Genetic and Epigenetic Differences in Monozygotic Twins with NF1" @default.
- W245062467 doi "https://doi.org/10.21236/ada554129" @default.
- W245062467 hasPublicationYear "2011" @default.
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