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Results: Trisomy 11 Blastocysts – H19
MAT = maternal / oocyte contribution
H19
Human 11p15.5
PAT = paternal / sperm contribution
~33% MAT Methylation MAT
OR
MAT ~66%
PAT
PAT Methylation PAT
T1121
T1133
SNP T: 78%
SNP A: 7%
SNP A: 80% SNP T: 23%
T1123
T1138
SNP T: 58%
SNP A: 0%
SNP T: 35%
T1125
T1144
SNP A: 30%
SNP A: 74% SNP T: 11%
T1126
T1145
SNP T: 26%
SNP T: 11%
T1131
T1146
SNP T: 45%
SNP A: 4%
SNP T: 81%
SNP A: 1%
T1132
T1147
SNP T: 33%
SNP A: 7%
SNP T: 35%
ICR
Denomme et al, 2016
Results: Trisomy 11 Blastocysts – KCNQ1OT1
MAT = maternal / oocyte contribution
PAT = paternal / sperm contribution
ICR
KCNQ1OT1
~66% MAT
OR
Human 11p15.5
MAT ~33%
PAT Methylation
T1121
T1133
SNP G: 49% T1122
SNP G: 54% T1138
*SNP removes CpG #1
SNP G: 61%
SNP G: 89%
SNP A: 21%
T1123
T1144
SNP G: 65%
SNP G: 59%
T1131
T1145
SNP G: 63%
SNP G: 65%
T1132
T1147
SNP G: 67%
SNP G: 66%
Methylation MAT PAT
PAT
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Denomme et al, 2016
PRECONGRESS COURSE 08 I BARCELONA, SPAIN – 1 JULY 2018 63