Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

The New England Journal of Medicine
Michael T GabbettNicholas M Fisk

Abstract

Sesquizygotic multiple pregnancy is an exceptional intermediate between monozygotic and dizygotic twinning. We report a monochorionic twin pregnancy with fetal sex discordance. Genotyping of amniotic fluid from each sac showed that the twins were maternally identical but chimerically shared 78% of their paternal genome, which makes them genetically in between monozygotic and dizygotic; they are sesquizygotic. We observed no evidence of sesquizygosis in 968 dizygotic twin pairs whom we screened by means of pangenome single-nucleotide polymorphism genotyping. Data from published repositories also show that sesquizygosis is a rare event. Detailed genotyping implicates chimerism arising at the juncture of zygotic division, termed heterogonesis, as the likely initial step in the causation of sesquizygosis.

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Citations

Jan 8, 2020·Journal of Assisted Reproduction and Genetics·Zuzana Trebichalská, Zuzana Holubcová
Apr 12, 2020·Journal of Human Genetics·Rie KawamuraMariko Taniguchi-Ikeda
Sep 15, 2020·American Journal of Medical Genetics. Part a·Aaron P AdamWilliam B Dobyns
May 22, 2019·Clinical Case Reports·Maria E Barnes-Davis, DonnaMaria E Cortezzo
May 4, 2020·International Journal of Legal Medicine·Sohee ChoSoong Deok Lee
Feb 2, 2021·Prenatal Diagnosis·Heleen MassetJoris R Vermeesch
Jun 26, 2021·Prenatal Diagnosis·Peter Benn, Andrei Rebarber
Aug 25, 2021·Forensic Science International : Synergy·Nancy L Segal, Joseph L Nedelec
Oct 20, 2021·The World Journal of Biological Psychiatry : the Official Journal of the World Federation of Societies of Biological Psychiatry·Daniel HupaloHarvey B Pollard

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