Appendix 6 Group 3 EV: Affected parents with the same euchromatic variants as their affected children

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.
8p23.1F,PPA Mild dysmorphismMat3142
15q11-q12PA Short staturePat3143
Total 21PA 2/2Mat 1; pat 16