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