PT - JOURNAL ARTICLE AU - Bert B A de Vries AU - Hanneke M A van den Boer-van den Berg AU - Martinus F Niermeijer AU - Aad Tibben TI - Dilemmas in counselling females with the fragile X syndrome AID - 10.1136/jmg.36.2.167 DP - 1999 Feb 01 TA - Journal of Medical Genetics PG - 167--170 VI - 36 IP - 2 4099 - http://jmg.bmj.com/content/36/2/167.short 4100 - http://jmg.bmj.com/content/36/2/167.full SO - J Med Genet1999 Feb 01; 36 AB - 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.