Institut for Biomedicin

Lars Bolund

Triploidy-Observations in 154 Diandric Cases

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Triploidy-Observations in 154 Diandric Cases. / Scholz, Nanna Brink; Bolund, Lars; Nyegaard, Mette; Faaborg, Louise; Jørgensen, Mette Warming; Lund, Helle; Niemann, Isa; Sunde, Lone.

I: PLOS ONE, Bind 10, Nr. 11, 2015, s. e0142545.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

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Scholz, Nanna Brink o.a.. "Triploidy-Observations in 154 Diandric Cases". PLOS ONE. 2015, 10(11). e0142545. https://doi.org/10.1371/journal.pone.0142545

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@article{99ce8b07f7ea48a2b73403b601c2ea4e,
title = "Triploidy-Observations in 154 Diandric Cases",
abstract = "Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. We used analysis of DNA markers and/or methylation sensitive-MLPA and collected data from registries and patients records. We performed whole genome SNP analysis of one case of twinning (PP+PM).In all 154 triploids or near-triploids we found two different paternal contributions to the genome (P1P2M). The ratios between the sex chromosomal constitutions XXX, XXY, and XYY were 5.7: 6.9: 1.0. No cases of GTN were observed. Our results corroborate that all triploid human conceptuses with vesicular chorionic villi have the parental type P1P2M. The sex chromosomal ratios suggest approximately equal frequencies of meiosis I and meiosis II errors with selection against the XYY conceptuses or a combination of dispermy, non-disjunction in meiosis I and meiosis II and selection against XYY conceptuses. Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0{\%} (95{\%} CI: 0-1,4{\%}).",
author = "Scholz, {Nanna Brink} and Lars Bolund and Mette Nyegaard and Louise Faaborg and J{\o}rgensen, {Mette Warming} and Helle Lund and Isa Niemann and Lone Sunde",
year = "2015",
doi = "10.1371/journal.pone.0142545",
language = "English",
volume = "10",
pages = "e0142545",
journal = "P L o S One",
issn = "1932-6203",
publisher = "public library of science",
number = "11",

}

RIS

TY - JOUR

T1 - Triploidy-Observations in 154 Diandric Cases

AU - Scholz, Nanna Brink

AU - Bolund, Lars

AU - Nyegaard, Mette

AU - Faaborg, Louise

AU - Jørgensen, Mette Warming

AU - Lund, Helle

AU - Niemann, Isa

AU - Sunde, Lone

PY - 2015

Y1 - 2015

N2 - Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. We used analysis of DNA markers and/or methylation sensitive-MLPA and collected data from registries and patients records. We performed whole genome SNP analysis of one case of twinning (PP+PM).In all 154 triploids or near-triploids we found two different paternal contributions to the genome (P1P2M). The ratios between the sex chromosomal constitutions XXX, XXY, and XYY were 5.7: 6.9: 1.0. No cases of GTN were observed. Our results corroborate that all triploid human conceptuses with vesicular chorionic villi have the parental type P1P2M. The sex chromosomal ratios suggest approximately equal frequencies of meiosis I and meiosis II errors with selection against the XYY conceptuses or a combination of dispermy, non-disjunction in meiosis I and meiosis II and selection against XYY conceptuses. Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0-1,4%).

AB - Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. We used analysis of DNA markers and/or methylation sensitive-MLPA and collected data from registries and patients records. We performed whole genome SNP analysis of one case of twinning (PP+PM).In all 154 triploids or near-triploids we found two different paternal contributions to the genome (P1P2M). The ratios between the sex chromosomal constitutions XXX, XXY, and XYY were 5.7: 6.9: 1.0. No cases of GTN were observed. Our results corroborate that all triploid human conceptuses with vesicular chorionic villi have the parental type P1P2M. The sex chromosomal ratios suggest approximately equal frequencies of meiosis I and meiosis II errors with selection against the XYY conceptuses or a combination of dispermy, non-disjunction in meiosis I and meiosis II and selection against XYY conceptuses. Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0-1,4%).

U2 - 10.1371/journal.pone.0142545

DO - 10.1371/journal.pone.0142545

M3 - Journal article

C2 - 26562155

VL - 10

SP - e0142545

JO - P L o S One

JF - P L o S One

SN - 1932-6203

IS - 11

ER -