ArticleCase reports in genetics2014
A turner syndrome patient carrying a mosaic distal x chromosome marker.
Article in Case reports in genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Turner Syndrome and Hepatic Adenomas: A Case Report.Cureus · 2025Article
- Turner Syndrome Complicated by aJCEM case reports · 2025Article
- Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.Journal of pediatric genetics · 2023Review
- Article
- Best practices, challenges and innovations in pediatrics in 2019.Italian journal of pediatrics · 2020Review
- Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2020Article
- Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia.Journal of the ASEAN Federation of Endocrine Societies · 2019Article
- X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report.Molecular cytogenetics · 2017Article
- Small supernumerary marker chromosomes and their correlation with specific syndromes.Advanced biomedical research · 2015Review
- A Rare Case of Mosaic Ring Turner Syndrome with Horseshoe Kidney.Journal of human reproductive sciencesArticle
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild "classic" Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.