ArticleJournal of human reproductive sciences
A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney.
Article in Journal of human reproductive sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Cytomolecular Analysis of a Ring X Chromosome in a Patient with Turner Syndrome: A Case Report.Molecular syndromology · 2026Article
- Review
- Turner Syndrome where are we?Orphanet journal of rare diseases · 2024Review
- Molecular and cytogenetic analysis of small supernumerary marker chromosomes in prenatal diagnosis.Molecular cytogenetics · 2023Article
- Organ Abnormalities Caused by Turner Syndrome.Cells · 2023Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rearranged X chromosomes in Turner syndrome (TS) generally present with a mild phenotype, but in cases of ring X chromosomes, the incidence of intellectual disability and other congenital abnormalities can be significantly higher depending on the size of the ring and the involvement of X-inactive specific transcript (XIST) region. Here, we report a 17-year-old female who was referred for a cytogenetic analysis because of primary amenorrhoea. The patient, of normal intelligence, had been found to have traits of TS, especially short stature and some rare findings such as horseshoe kidney and short fourth toe. Cytogenetic analysis showed a mosaic 45, X/46, X and r(X) karyotype. Fluorescence
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Registered trials
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