ArticleMeta gene2015
A rare case of mosaic 45,X/47,XX,+13 in 28-year-old women with secondary amenorrhoea: A case report and literature review.
Article in Meta gene, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Toxicity and antiproliferative activity assessment of a novel compound Zr I isolated from Zingiber roseum Rosc.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.American journal of medical genetics. Part A · 2018Article
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Authors and funding
4 authors.
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Abstract
In the present paper we report an extremely rare case of mosaicism of 45,X/47,XX,+13 in a 28-year-old women. The patient was referred for cytogenetic evaluation for secondary amenorrhoea. The patient was found to have some mild characteristic features of Turner syndrome such as wide carrying angle and short stature. Ultrasound examination revealed the presence of a small sized uterus and bilateral streak ovaries. G-banded chromosome analysis revealed a mosaic female karyotype involving two different cell lines. One cell line (72% of analysed metaphases) presented monosomy of X while the remaining 28% of cells showed trisomy of chromosome 13. Fluorescence in situ hybridization (FISH) with locus specific probe for trisomy 13 and CEP X for monosomy X substantiated the results obtained from karyotyping.
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