ArticleOxford medical case reports2019
Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.
Article in Oxford medical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Prenatal detection and molecular cytogenetic characterization of Xp deletion and Xq duplication: a case report and literature review.BMC medical genomics · 2024Review
- Turner syndrome due to Xp22.33 deletion combined with 7p22.3 duplication.Annals of pediatric endocrinology & metabolism · 2023Article
- Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study.Journal of cellular and molecular medicine · 2023Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome single nucleotide polymorphism (SNP) array revealed microdeletion of Xp22.33p22.12. Patient reached her menarche at age 11 years. Both the patient and her mother have short stature. Her mother, however, has a normal karyotype. This is one of few case reports of TS with microdeletion of Xp22.33 reported in the literature, with normal ovarian function and possible future transmission of the deletion to the next generations.
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Registered trials
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