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Fragile X testing in a diagnostic cytogenetics laboratory.
  1. L E Voullaire,
  2. G C Webb,
  3. M Leversha
  1. Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.


    Chromosome results obtained from 1012 patients referred with developmental delay without known cause within the three years 1985 to 1987 are reported. G banding analysis and assessment of 70 cells for fragile X gave abnormal results in 84 cases: fragile X in 31 patients and other abnormalities in 53 patients. A further 16 sibs expressing the fragile X were detected in family studies originating from the 31 index cases. This yield justifies continuation of procedures which detect both fragile X and subtle chromosomal abnormalities in these patients.

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