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Dilemmas in counselling females with the fragile X syndrome
  1. Bert B A de Vriesa,
  2. Hanneke M A van den Boer-van den Berga,b,
  3. Martinus F Niermeijera,
  4. Aad Tibbena,c
  1. aDepartment of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands, bDepartment of Philosophy, Medical Ethics and History of Medicine, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands, cDepartment of Medical Psychology and Psychotherapy, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands
  1. Dr de Vries.

Abstract

The dilemmas in counselling a mildly retarded female with the fragile X syndrome and her retarded partner are presented. The fragile X syndrome is an X linked mental retardation disorder that affects males and, often less severely, females. Affected females have an increased risk of having affected offspring.

 The counselling of this couple was complicated by their impaired comprehension which subsequently impaired their thinking on the different options. The woman became pregnant and underwent CVS, which showed an affected male fetus. The pregnancy was terminated. Whether non-directive counselling for this couple was the appropriate method is discussed and the importance of a system oriented approach, through involving relatives, is stressed.

  • fragile X syndrome
  • counselling
  • mental retardation
  • FMR1

https://doi.org/10.1136/jmg.36.2.167

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