Article
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
American journal of human genetics - 1 Apr 2008
Fantes J A, Boland E, Ramsay J, Donnai D, Splitt M, Goodship J A, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick D R, Black G C M
Abstract excerpt
We report fluorescence in situ hybridization (FISH) mapping of 152, mostly de novo, apparently balanced chromosomal rearrangement (ABCR) breakpoints in 76 individuals, 30 of whom had no obvious phenotypic abnormality (control group) and 46 of whom had an associated disease (case group). The aim of this study was to identify breakpoint characteristics that could discriminate between these groups and which might be...
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