Appendix 6 Group 3 EV: Affected parents with the same euchromatic variants as their affected children
| Chr | Region | Con | Ascertainment | Mode | C | Ref |
|---|---|---|---|---|---|---|
| Chr, chromosome; Con, confirmed with FISH (F); chromosome paint (P) or molecular analysis (M); C, number of carriers in family; PD, prenatal diagnosis; PA, phenotypic abnormality; MC, miscarriage; I, infertility; Mat, maternal; Pat, paternal. | ||||||
| 8 | p23.1 | F,P | PA Mild dysmorphism | Mat | 3 | 142 |
| 15 | q11-q12 | – | PA Short stature | Pat | 3 | 143 |
| Total | 2 | 1 | PA 2/2 | Mat 1; pat 1 | 6 | |