Sample | Embryo characteristics | |||
Inferred allelesa | aCGH result | Interpretation | Fate of embryo | |
2 | p.Arg178Ter wtc | 45, XX; -2 | Heterozygous carrier (paternal mutant allele); chromosome 2 monosomy | Not used |
5 | p.Arg178Ter/wt | 45, XX; -17 | Heterozygous carrier (paternal mutant allele); chromosome 17 monosomy | Not used |
6 | wt/p.Arg279Trp | 46, XY | Heterozygous carrier (maternal mutant allele) | Transferred attempt #2, healthy infant born |
7 | p.Arg178Ter/wt | 46, XX | Heterozygous carrier (paternal mutant allele) | Transferred attempt #2 |
9 | wt/p.Arg279Trp | 46, XY | Heterozygous carrier (maternal mutant allele) | Cryopreserved |
10 | wt/wt | 46, XX | Wild type at the SLC26A2 locus | Transferred attempt #1 |
11 | wt/p.Arg279Trp | 46, XY | Heterozygous carrier (maternal mutant allele) | Cryopreserved |
13 | wt/p.Arg279Trp | 46, XX | Heterozygous carrier (maternal mutant allele) | Cryopreserved |
14 | p.Arg178Ter/ p.Arg279Trp | NTb | Compound heterozygous mutant (maternal and paternal mutant alleles) | Not used |
17 | p.Arg178Ter/ p.Arg279Trp | NT | Compound heterozygous mutant (maternal and paternal mutant alleles) | Not used |
19 | wt/wt | 46, XY | Wild type at the SLC26A2 locus | Transferred attempt #1 |