Dilemmas in counselling females with the fragile X syndrome.
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 nondirective counselling for this couple was the appropriate method is discussed and the importance of a system oriented approach, through involving relatives, is stressed.
Department of Clinical Genetics, University Hospital Dijkzigt and Erasmus University, Rotterdam, The Netherlands.
B B
BB
de Vries
H M
HM
van den Boer-van den Berg
M F
MF
Niermeijer
A
A
Tibben
D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000523:psychology; D005817:Genetic Counseling / Q000523:psychology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology; D016601:RNA-Binding Proteins
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human