ArticleJournal of medical genetics2006
Androgenetic/biparental mosaicism causes placental mesenchymal dysplasia.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 197 citations in OpenAlex.
- Article
- Whole-genome paternal uniparental disomy identified through prenatal single-nucleotide polymorphism-based cell-free DNA screening.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- STR genotyping diagnosis of hydatidiform moles: an assessment of 2871 consecutive products of conceptions.Virchows Archiv : an international journal of pathology · 2025Article
- Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia.International journal of molecular sciences · 2025Article
- Article
- Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.Diagnostics (Basel, Switzerland) · 2023Article
- Placental mesenchymal dysplasia complicated with sudden fetal demise and amniotic fluid embolism: a case report.BMC pregnancy and childbirth · 2022Article
- Review
- Parental genomes segregate into distinct blastomeres during multipolar zygotic divisions leading to mixoploid and chimeric blastocysts.Genome biology · 2022Article
- Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case report.Surgical case reports · 2022Article
- Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia.Clinical epigenetics · 2022Article
- Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism.Reproduction & fertility · 2022Review
- Prenatal Diagnosis of Placental Mesenchymal Dysplasia with 46, X, Isochromosome Xq/45, X Mosaicism.Genes · 2022Article
- A Challenging Diagnosis: Placental Mesenchymal Dysplasia-Literature Review and Case Report.Diagnostics (Basel, Switzerland) · 2022Review
- Advances in the diagnosis and early management of gestational trophoblastic disease.BMJ medicine · 2022Review
- Genetic variation in placental insufficiency: What have we learned over time?Frontiers in cell and developmental biology · 2022Review
- Variants in Maternal Effect Genes and Relaxed Imprinting Control in a Special Placental Mesenchymal Dysplasia Case with Mild Trophoblast Hyperplasia.Biomedicines · 2021Article
- Refined diagnosis of hydatidiform moles with p57 immunohistochemistry and molecular genotyping: updated analysis of a prospective series of 2217 cases.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Sperm DNA damage causes genomic instability in early embryonic development.Science advances · 2020Article
- Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPlacental mesenchymal dysplasia (PMD) is a distinct syndrome of unknown aetiology that is associated with significant fetal morbidity and mortality. Intrauterine growth restriction is common, yet, paradoxically, many of the associated fetuses/newborns have been diagnosed with Beckwith-Wiedemann syndrome (BWS).
methodsWe report two cases of PMD with high levels of androgenetic (complete paternal uniparental isodisomy) cells in the placenta and document, in one case, a likely androgenetic contribution to the fetus as well.
resultsThe same haploid paternal complement found in the androgenetic cells was present in coexisting biparental cells, suggesting origin from a single fertilisation event.
conclusionsPreferential allocation of the normal cells into the trophoblast explains the absence of trophoblast overgrowth, a key feature of this syndrome. Interestingly, the distribution of androgenetic cells appears to differ from that reported for artificially created androgenetic mouse chimeras. Androgenetic mosaicism for the first time provides an aetiology for PMD, and may be a novel mechanism for BWS and unexplained intrauterine growth restriction.
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Registered trials
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