Detection of the fragile X chromosome and other fragile sites |
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| Authors: | Frederick Hecht Grant R. Sutherland |
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| Affiliation: | The Genetics Center and Cancer Research Center, Southwest Biomedical Research Institute, Tempe, Arizona, U.S.A.;Adelaide Children's Hospital, North Adelaide, South Australia, Australia |
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| Abstract: | To assist in cell sample size selection and detect the fragile X chromosome, statistical tables have been presented. A comparable approach had been suggested earlier for the diagnosis of chromosome mosaicism. The cytologic detection of the fragile X or any fragile site is simply a special case in the detection of mosaicism. Minimum numbers of metaphases are recommended for fragile X analysis to have 95% confidence that the fragile X is not manifest in a given proportion of cells and similar recommendations apply to all other fragile sites. |
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| Keywords: | Fragile X chromosome fragile sites human chromosomes mosaicism sample size |
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