ArticleMovement disorders : official journal of the Movement Disorder Society2009
Tremor in 48,XXYY syndrome.
Article in Movement disorders : official journal of the Movement Disorder Society, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 30 citations in OpenAlex.
- Tremor in Pediatric Populations: Clinical Characteristics, Differential Diagnosis, and Management Challenges.Movement disorders clinical practice · 2025Review
- "Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option".Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.The Journal of clinical endocrinology and metabolism · 2024Article
- Phenomenology of Tremor In 48,XXYY Syndrome: A Case Report.Movement disorders clinical practice · 2023Article
- Movement Disorders Associated with Hypogonadism.Movement disorders clinical practice · 2021Review
- Adverse pathophysiological influence of early testosterone therapy on the testes of boys with higher grade sex chromosome aneuploidies (HGAs): a retrospective, cross-sectional study.Journal of endocrinological investigation · 2021Article
- Tremor and Dystonia in Jacob's Syndrome (47,XYY).Movement disorders clinical practice · 2020Article
- The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes.Physical & occupational therapy in pediatrics · 2019Article
- Tremor and Klinefelter's Syndrome.Tremor and other hyperkinetic movements (New York, N.Y.) · 2015Article
- An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations.Indian journal of endocrinology and metabolism · 2012Article
- 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.Acta paediatrica (Oslo, Norway : 1992) · 2011Review
- 48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.Case reports in medicine · 2010Article
Corrections and comments
- Erratum issuedBorodyanskya, Mariya [corrected to Borodyanskaya, Mariya]
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or microorchidism.
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What OpenQuestion holds
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.