Article
Ring chromosome 15: characterization by array CGH.
Human genetics - 1 Jan 2006
Glass Ian A, Rauen Katherine A, Chen Emily, Parkes Jillian, Alberston Donna G, Pinkel Daniel, Cotter Philip D
Abstract excerpt
Ring chromosome 15 [r(15)] is an uncommon finding with less than 50 patients reported. Precise genotype-phenotype correlations are problematic because of the difficulties in determining the extent of euchromatic loss, the level of mosaicism, and the influence of the timing of ascertainment. We report two discordant examples of r(15) patients. In the first case, prenatal diagnosis of a de novo r(15) was made...
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