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  • Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

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    Gabbett208341.pdf (617.7Kb)
    Author(s)
    Gabbett, Michael T
    Laporte, Johanna
    Sekar, Renuka
    Nandini, Adayapalam
    McGrath, Pauline
    Sapkota, Yadav
    Jiang, Peiyong
    Zhang, Haiqiang
    Burgess, Trent
    Montgomery, Grant W
    Chiu, Rossa
    Fisk, Nicholas M
    Griffith University Author(s)
    Gabbett, Michael T.
    Year published
    2019
    Metadata
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    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 ...
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    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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    Journal Title
    NEW ENGLAND JOURNAL OF MEDICINE
    Volume
    380
    Issue
    9
    DOI
    https://doi.org/10.1056/NEJMoa1701313
    Copyright Statement
    © 2019 Massachusetts Medical Society. The attached file is reproduced here in accordance with the copyright policy of the publisher. Please refer to the journal's website for access to the definitive, published version.
    Subject
    Biomedical and clinical sciences
    Clinical sciences
    Publication URI
    http://hdl.handle.net/10072/384437
    Collection
    • Journal articles

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