Intended for healthcare professionals


Screening for fragile X syndrome: a model for genetic disorders?

BMJ 1997; 315 doi: (Published 08 November 1997) Cite this as: BMJ 1997;315:1174

The merits of screening should be considered separately for each disorder

  1. Angela Barnicoat (, Consultant clinical geneticista
  1. a Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH

    The fragile X syndrome is often cited as the commonest inherited cause of mental handicap. It was described after the finding that a fragile site at the distal end of the X chromosome was associated with mental handicap. The X linked inheritance pattern is atypical; female carriers may show some features, and males may also occasionally be asymptomatic carriers. Fragile X syndrome was the first of an increasing number of neurological genetic conditions in which a dynamic mutation of a triplet repeat was identified, where instability between generations explained the unusual inheritance pattern.1 The documentation of the molecular pathology in fragile X allowed confirmation of carrier status in both male and female family members. The growth in understanding of the condition led to early calls for screening,2 proposed both to implement early therapy and to reduce the birth prevalence.

    Several approaches to screening are possible, broadly divided into either case finding with cascade screening (of relatives at risk in the extended family) or population …

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