ArticleJournal of assisted reproduction and genetics2013
45,X mosaicism in northeast China: a clinical report and review of the literature.
Article in Journal of assisted reproduction and genetics, 2013. 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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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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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicism.Molecular genetics and genomics : MGG · 2022Article
- A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family.Molecular genetics and genomics : MGG · 2021Article
- Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature.Molecular genetics & genomic medicine · 2019Review
- Brachydactyly E: isolated or as a feature of a syndrome.Orphanet journal of rare diseases · 2013Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo explore the prevalence and clinical features, especially the reproductive function, of 45,X mosaicism patients in northeast China.
methodsGTG-banding was performed on a series of 2,250 patients from our genetic counseling clinic. Each of these patients underwent a physical examination and was interviewed about their medical history and reproductive problems. Literature on 45,X mosaicism was accessed using PubMed and reviewed.
resultsThe prevalence of 45,X mosaicism in northeast China is 0.36 % (8/2250), and the mosaic karyotype of our study accounted for 61.54 % (8/13) of Turner syndrome cases. This is comparable with studies from Asia, Europe, South America and other regions. The affected patients showed genital abnormalities, abnormal pregnancy or infertility.
conclusion45,X mosaicism is commonly seen in the genetic counseling clinic. Extensive cytogenetic assessment may improve the detection rate in patients with congenital dysplasia, or history of abnormal pregnancy or infertility. Karyotyping plays a key role in prognosis and assisted reproduction or early surgical treatment.
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