ArticleJournal of assisted reproduction and genetics2016
Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome.
Article in Journal of assisted reproduction and genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 19 citations in OpenAlex.
- Cytomolecular Analysis of a Ring X Chromosome in a Patient with Turner Syndrome: A Case Report.Molecular syndromology · 2026Article
- Turner Syndrome Complicated by aJCEM case reports · 2025Article
- Identification of apelin/APJ signaling dysregulation in a human iPSC-derived granulosa cell model of Turner syndrome.Cell death discovery · 2024Article
- Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.Molecular cytogenetics · 2023Article
- Article
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
- Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome.Molecular cytogenetics · 2022Article
- Origin of the X-chromosome influences the development and treatment outcomes of Turner syndrome.PeerJ · 2021Article
- Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2020Article
- Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.Molecular cytogenetics · 2020Article
- C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis.Molecular cytogenetics · 2019Article
- A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney.Journal of human reproductive sciencesArticle
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4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIn the present study, we reported two cases of TS with mosaic ring X chromosome showing common clinical characteristics of TS like growth retardation and ovarian dysfunction. The purpose of the present study was to cytogenetically characterize both cases.
methodsWhole blood culture and G-banding were performed for karyotyping the cases following standard protocol. Origin of the ring chromosome and degree of mosaicism were further determined by fluorescence in situ hybridization (FISH). Breakpoints and loss of genetic material in formation of different ring X chromosomes r (X) in cases were determined with the help of cytogenetic microarray.
resultsCases 1 and 2 with ring chromosome were cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X chromosomes were found to be ~75 and ~95 Mb in cases 1 and 2, respectively, using visual estimation as part of cytogenetic observation. In both cases, we observed breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 and Xq22.1 compared to regions in previously reported cases associated with ovarian dysgenesis.
conclusionsOur observation agrees with the fact that despite of large heterogeneity, severity of the cases with intact X-inactive specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq deletion having crucial genes involved directly or indirectly in various physiological involving ovarian cyclicity.
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