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Conclusions: Trisomy Blastocysts
• All three imprinted genes (SNRPN, H19, KCNQ1OT1) behaved as expected for three chromosome contributions (~33% or ~66% methylation) for all blastocysts.
• All three imprinted genes (SNRPN, H19, KCNQ1OT1) solely had a maternal (oocyte) GAIN as the origin for the 3rd chromosome.
Denomme et al, 2016
Conclusions: Monosomy Blastocysts
• Two imprinted genes (SNRPN, H19) behaved as expected for one chromosome contribution (~0% or ~100% methylation) for all blastocysts.
• All three imprinted genes (SNRPN, H19, KCNQ1OT1) showed a bias towards a maternal (oocyte) LOSS with a select few showing paternal (sperm) LOSS for the origin of the missing chromosome.
• One imprinted gene (KCNQ1OT1) had a significant subset of blastocysts (7/20 = 35%) that more closely resembled diploid ~50% methylation, suggesting some ability to compensate for the missing chromosome at this domain.
Denomme et al, 2016
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