ArticleClinical case reports2016
Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.
Article in Clinical case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Review
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Building the brain mosaic: an expanded view.Trends in genetics : TIG · 2024Review
- Fetus Conceived via In Vitro Fertilization With Mosaic Uniparental Isodisomy and Two Balanced Translocations.Cureus · 2024Article
- Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing.Frontiers in endocrinology · 2023Article
- Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Human molecular genetics · 2020Review
- A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.Cold Spring Harbor molecular case studies · 2019Article
- A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review.Molecular syndromology · 2018Article
- A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.Journal of human genetics · 2018Review
- Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome.Clinical case reports · 2018Article
- Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation.Molecular syndromology · 2017Article
- Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl.Clinical case reports · 2016Article
- Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability.Molecular cytogenetics · 2016Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.