Page 64 - PCC08

Summary: Trisomy 11 Blastocysts
100% 90% 80% 70% 60% 50% 40% 30% 20% 10%
0%
SNRPN
Chr 15
H19
Chr 11
KCNQ1OT1
Chr 11
TRISOMY 11:
Chr 11: All Trisomy 11 blastocysts had ~33% methylation at H19, and ~66% methylation at KCNQ1OT1, suggesting maternal gain in the oocyte for the 3rd chromosome 11.
Chr 15: Diploid chromosome; SNRPN unaffected at 50% methylation.
Denomme et al, 2016
Results: Monosomy 15 Blastocysts – SNRPN
MAT = maternal / oocyte contribution
PAT = paternal / sperm contribution
ICR
SNRPN
~100% MAT OR Methylation Loss of PAT
Loss of MAT
Human 15q11‐13
PAT ~0% Methylation
M1501 SNP G: 3%
M1503 SNP G: 2%
M1507 SNP G: 2%
M1508 SNP G: 2%
M1513 SNP G: 0%
M1514 SNP G: 4%
M1548 SNP G: 3%
M1558
SNP G: 2%
M1515 SNP G: 1%
M1549 SNP G: 85%
M1540 SNP G: 1%
M1555 SNP G: 3%
M1541 SNP A: 1%
M1547 SNP G: 2%
M1556 SNP G: 94%
M1557 SNP G: 1%
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Percent Methylation