Article Text

PDF

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.

    Abstract

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.