ArticleAnnals of pediatric endocrinology & metabolism2021
Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.
Article in Annals of pediatric endocrinology & metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 2 citations in OpenAlex.
- Balancing oncologic risk and fertility potential: a single-center study on Turner syndrome patients with Y chromosome material.Frontiers in endocrinology · 2026Article
- A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.Reports (MDPI) · 2025Article
- Bone Health and Psychological Wellbeing in Turner Syndrome: A Tertiary Healthcare Centre Experience from North India.Indian journal of endocrinology and metabolismArticle
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTurner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction.
methodsDNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used.
resultsWe found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity.
conclusionOral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost.
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