From diagnosis in index patient (II.2) to risk in pregnancy of couple (II.1+II.1A)
| Time1-150 | |
|---|---|
| 0 | Diagnosis of fragile X syndrome in II.1’s brother (II.2) |
| 4/12 | II.1 carrier of full mutation |
| 2 2/12 | First counselling of couple II.1 and II.1A together with II.1’s parents and II.1A’s mother |
| 2 6/12 | Second counselling in presence of psychologist: the impact of prenatal diagnosis and selective abortion |
| 2 9/12 | II.1 and II.1A opted to try one pregnancy and later adoption |
| 3 4/12 | Marriage |
| 3 6/12 | II.1A brought up oocyte donation, suggested to them by others |
| 4 | II.1 is pregnant by husband, prenatal diagnosis |
| 4 1/12 | CVS test result: 47,XXY, both X chromosomes with a full mutation; pregnancy terminated |
↵1-150 Time lapse (in years) since diagnosing index patient.