ArticleAmerican journal of medical genetics. Part A2021
Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- An allele-resolved nanopore-guided tour of the human placental methylome.Nature communications · 2025Article
- Genetics Etiologies Associated with Fetal Growth Restriction.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2022Review
- Genetic Background of Fetal Growth Restriction.International journal of molecular sciences · 2021Review
- Confined placental mosaicism involving multiple de novo copy number variants associated with fetal growth restriction: A case report.American journal of medical genetics. Part A · 2021Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The presence of multiple large (>1 Mb) copy number variants (CNVs) in non-malignant tissue is rare in human genetics. We present a liveborn male with a birth weight below the first percentile associated with placental mosaicism involving eight 2.4-3.9 Mb de novo duplications. We found that the duplications likely co-localized to the same cells, were mosaic in the placenta, and impacted maternal and paternal chromosomes. In addition, 27.4 Mb and 240 genes were duplicated in affected cells, including candidate placental genes KISS1 and REN. We ruled out involvement of homologous recombination-based mechanisms or an altered epigenome in generating the CNVs. This case highlights the diversity of genetic abnormalities in the human placenta and the gaps in our knowledge of how such errors arise.
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