Table 1.

Results of CCS, STR, SNP, and recombination analyses in embryos at risk of Dyskeratosis Congenita

Embryo number	CCS	STR/sequencing analysis	SNP qPCR analysis	Recombination
1	46, XY	Carrier	Carrier	No
2	46, XY	Carriera	Normal	Yes
3	46, XX	Normal	Normal	Yes
4	45, XX,−16	N/Ab	Carrier	No
5	46, XX	Affected	Affected	No
6	46, XX	Carrier	Carrier	Yes
7	46, XX	Affected	Affected	No
8	46, XY, +18,−22	Normal	Normal	Yes
9	45, XX,−11	Normal	Normal	No
10	46, XX	Affecteda	Carrier	Yes
11	46, XY	Normal	Normal	No
12	47, XY, +18	Carriera	Affected	Yes
13	46, XY	Carrier	Carrier	No
14	46, XX	N/Ab	Normal	Yes
15	46, XY	Affected	Affected	No
16	46, XY	N/Ab	Carrier	Yes
17	47, XY, +12	Affected	Affected	Yes

^aMisdiagnosis, ^bNo result obtained