ArticleFrontiers in endocrinology2024
Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.
Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Review
- Karyotype-specific cardiovascular and metabolic profiles in Turner syndrome: a retrospective echocardiographic study.Orphanet journal of rare diseases · 2026Article
- New insight about early miscarriage: a prenatal data-based study.Journal of translational medicine · 2026Article
- A Rare Case of Mild Hemophilia A in a Female with Mosaic Monosomy X and a De NovoInternational journal of molecular sciences · 2025Article
- Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study.BMJ paediatrics open · 2025Article
- Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.American journal of medical genetics. Part A · 2024Article
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
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Abstract
Purpose: Analyze the relationship between changes in the proportion of X-chromosome deletions and clinical manifestations in children with Turner syndrome (TS). Methods: X-chromosome number abnormalities in 8,635 children with growth retardation were identified using fluorescence Results: A total of 389 children had X-chromosome number abnormalities, with an average age at diagnosis of 9.2 years. There was a significant increase in diagnoses around the ages of 3 and 7 years and highest number of diagnoses at 10 years of age. 130 with XO (complete loss of an X-chromosome), 205 with XO/XX, 8 with XO/XXX, 23 with XO/XX/XXX, 19 with XO/XY, and 4 with XO/XY/XYY. Body and facial phenotypes increased with higher mosaicism proportions, with a relatively high correlation shown with Pearson correlation analysis ( Conclusion: The mosaicism (XO/XX) is the most common karyotype of TS in screened cases. The phenotypes in children with TS may increase with the proportion of X-chromosome deletions, but the renal disease and comorbidities did not show the same characteristics.
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