Table 1

From diagnosis in index patient (II.2) to risk in pregnancy of couple (II.1+II.1A)

0Diagnosis of fragile X syndrome in II.1’s brother (II.2)
4/12II.1 carrier of full mutation
2 2/12First counselling of couple II.1 and II.1A together with II.1’s parents and II.1A’s mother
2 6/12Second counselling in presence of psychologist: the impact of prenatal diagnosis and selective abortion
2 9/12II.1 and II.1A opted to try one pregnancy and later adoption
3 4/12Marriage
3 6/12II.1A brought up oocyte donation, suggested to them by others
4II.1 is pregnant by husband, prenatal diagnosis
4 1/12CVS test result: 47,XXY, both X chromosomes with a full mutation; pregnancy terminated
  • 1-150 Time lapse (in years) since diagnosing index patient.