ArticleJournal of endocrinological investigation2010
Y-chromosome markers in Turner syndrome: Screening of 130 patients.
Article in Journal of endocrinological investigation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Germ Cell Tumors in Dysgenetic Gonads.Clinics (Sao Paulo, Brazil) · 2019Pooled it
- Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.Annals of pediatric endocrinology & metabolism · 2021Article
- 45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea : A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2020Article
- Risk of Gonadoblastoma Development in Patients with Turner Syndrome with Cryptic Y Chromosome Material.Hormones & cancer · 2017Article
- Mosaicism in health and disease - clones picking up speed.Nature reviews. Genetics · 2017Review
- Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study).Therapeutics and clinical risk management · 2017Article
- Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.Hormone research in paediatrics · 2017Article
- Identification of Y-Chromosome Sequences in Turner Syndrome.Indian journal of pediatrics · 2016Article
- Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2014Article
- Alterations and chromosomal variants in the Ecuadorian population.Journal of biomedicine & biotechnology · 2012Article
- [Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome].Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloReview
- The Use of FluorescenceJournal of human reproductive sciencesArticle
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe presence of Y-chromosome material in patients with Turner syndrome (TS) is a risk factor for the development of gonadoblastoma. Cytogenetic analysis detects Y-chromosome mosaicism in about 5% of Turner patients. However, if Y-chromosome sequences are present in only a few cells, they may be missed by routine analysis. The use of molecular techniques to detect the presence of Y-chromosome fragments in such patients is becoming increasingly important.
aimThe objective of our study was to analyze cryptic Y-chromosome derivatives in Hungarian TS patient population by real-time PCR (RT-PCR). SUBJECTS AND
methodsCytogenetic and RT-PCR methods were used to examine peripheral blood DNA of 130 Hungarian patients with TS for the presence of Y-chromosome. With RT-PCR, 4 regions throughout the Y-chromosome were analyzed.
resultsInitial cytogenetic karyotyping assessing 10-50 metaphases revealed 3 patients with Y-chromosome positivity. RT-PCR revealed further 6 patients with Y-chromosome, who were initially considered as Y-negatives by standard kayotyping. The consecutive cytogenetic analysis of a large number (about 100) of metaphases (in 5 patients) and/or FISH (in 6 patients) however, also confirmed the presence of the Y-chromosome in these patients. Prophylactic gonadectomy was carried out in all 9 patients and 1 of them was diagnosed as having bilateral gonadoblastoma without clinical symptoms.
conclusionsWe recommend a routine molecular screening for hidden Y-chromosome sequences in Turner patients, who are negative for Y-chromosome by conventional cytogenetic analysis, in order to calculate the future risk of developing gonadoblastoma.
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