Detection of the fragile X chromosome and other fragile sites.
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.
D002452:Cell Count; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008677:Metaphase; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D013223:Statistics as Topic