ArticleMolecular cytogenetics2013
Distinct mechanism of formation of the 48, XXYY karyotype.
Article in Molecular cytogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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
5 citing papers in PubMed, 11 citations in OpenAlex.
- A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot.Clinical case reports · 2026Article
- Article
- Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.Frontiers in endocrinology · 2025Article
- Brain and behavior in 48, XXYY syndrome.NeuroImage. Clinical · 2015Article
- Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report.Journal of human reproductive sciencesArticle
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTo expose the unusual nature of a coincident sex chromosomal aneuploidy in a patient and his father. Molecular mechanisms involved probably are based on the sperm chromosome of paternal origin, which determine the mode of formation. Conventional cytogenetics techniques and multiple Quantitative Fluorescent PCR of STR markers in sexual chromosomes in the patient and his parents.
results48,XXYY and 47,XYY aneuploidies in the patient and his father, respectively, were identified. The additional X and Y chromosomes showed parental origin.
conclusionsAn infrequent origin of the 48,XXYY syndrome was demonstrated. Mostly, it is thought to result from an aneuploid sperm produced through two consecutive non disjunction events in both meiosis I and II in a chromosomally normal father, but in our father's patient a 47,XYY was discovered. It is suggested that a higher incidence of 24,XY and 24,YY sperm may be possible in 47,XYY individuals andan increased risk for aneuploidy pregnancies may exist. Although 48,XXYY patients and Klinefelter syndrome are often compared, recently they are regarded as a distinct genetic and clinical entity.
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Registered trials
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