Table 1

 Summary of ascertainment and transmission of UBCAs and EVs

GroupNoFNCoConAscertainmentMode
PDPAMCIOtherMPB
NoF, number of families; NoC, number of carriers; Con, confirmed with an independent technique; PD, prenatal diagnosis; PA, phenotypic abnormality; MC, miscarriages; I, Infertility; M, maternal transmission; P, Paternal transmission; B, Both maternal and paternal transmission.
1 (UBCAs)2366171902111553
2 (UBCAs)3078171250131992
3 (UBCAs)772305347110158127
Totals130374872496325922612
1 (EVs)38941529040418173
2 (EVs)3084150310001398
3 (EVs)2610200011
Totals70184312933404322711