ReviewActa paediatrica (Oslo, Norway : 1992)2011
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Review in Acta paediatrica (Oslo, Norway : 1992), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 1 of them a synthesis that pooled it.
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
88 citing papers in PubMed, 1 synthesis or guideline pooled it, 184 citations in OpenAlex.
- The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Natural History of Prenatally Identified Children with 48,XXYY Syndrome in Infancy and Early Childhood.medRxiv : the preprint server for health sciences · 2026Article
- Neonatal Presentation of 49,XXXXY (Fraccaro) Syndrome with Ventriculomegaly: Expanding the Early Neuroimaging Phenotype.Pediatric reports · 2026Article
- Phenotypic variability in Klinefelter syndrome: clinical findings including reported fatherhood.Endocrine · 2026Article
- Neurodevelopmental Profile of a 4.5-Year-Old Girl with Tetrasomy X.Pediatric reports · 2026Article
- Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Genes · 2026Article
- Klinefelter syndrome beyond hypogonadism: multisystem manifestations and a framework for clinical surveillance.Frontiers in endocrinology · 2026Review
- Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.Molecular genetics & genomic medicine · 2026Article
- A Rare Neonatal Case of 48,XXYY Syndrome Presenting With Ambiguous Genitalia and Tetralogy of Fallot.Clinical case reports · 2026Article
- Psychotropic Medication Use in 48,XXYY Syndrome.American journal of medical genetics. Part A · 2025Article
- An Overview of Oxidative Stress in Sex Chromosome Aneuploidies in Pediatric Populations.Antioxidants (Basel, Switzerland) · 2025Review
- Incidence of hip problems in developmental central hypotonia: A scoping review.Developmental medicine and child neurology · 2025Article
- Case Report of 49,XXXXY Syndrome: A Rare Variation of Klinefelter Syndrome With Seizure Disorder and ASD.Clinical case reports · 2025Article
- Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.Frontiers in endocrinology · 2025Article
- Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.Einstein (Sao Paulo, Brazil) · 2025Article
- Article
- Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.International journal of neonatal screening · 2024Article
- Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.BMC pediatrics · 2024Review
- A Challenging Case of Diabetes in a Patient With XXYY Syndrome.JCEM case reports · 2024Article
- Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY.Journal of community genetics · 2024Article
28 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
unlabelledSex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments.
conclusionThe more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments.
Indexed as
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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.