ArticleAmerican journal of medical genetics. Part A2010
Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.
Article in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 2 of them syntheses 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.
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Who cites it
92 citing papers in PubMed, 2 syntheses or guidelines pooled it, 221 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- Escape from X-chromosome inactivation: from gene discovery to regulatory mechanisms.Biochemical Society transactions · 2026Review
- Age-specific Contributions to Height in Boys with Klinefelter Syndrome: Analysis of Growth Using the QEPS Model.Journal of the Endocrine Society · 2026Article
- Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.Brain sciences · 2026Review
- Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Genes · 2026Article
- Phenotype Variations in a Family with Various Rearrangements in the Locus of theInternational journal of molecular sciences · 2026Article
- Klinefelter syndrome beyond hypogonadism: multisystem manifestations and a framework for clinical surveillance.Frontiers in endocrinology · 2026Review
- Impact of low-level sex chromosome mosaicism (<10%) on clinical outcomes of first fresh embryo transfer: a propensity score-matched retrospective cohort study.Frontiers in endocrinology · 2026Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Article
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.Communications biology · 2025Article
- <italic>IGF1</italic> Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.Hormone research in paediatrics · 2025Article
- X-inactive specific transcript (XIST) can determine sex differences in cardiovascular drug responses: focus on RNA therapeutics.Frontiers in pharmacology · 2025Article
- Single-Center Experience in Patients with Mixed Gonadal Dysgenesis.Turkish archives of pediatrics · 2024Article
- From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.The Journal of clinical endocrinology and metabolism · 2024Article
- Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia.BMC ophthalmology · 2024Article
- An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.American journal of medical genetics. Part C, Seminars in medical genetics · 2024Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
Tall stature and eunuchoid body proportions characterize patients with 47,XXY Klinefelter syndrome, whereas patients with 45,X Turner syndrome are characterized by impaired growth. Growth is relatively well characterized in these two syndromes, while few studies describe the growth of patients with higher grade sex chromosome aneuploidies. It has been proposed that tall stature in sex chromosome aneuploidy is related to an overexpression of SHOX, although the copy number of SHOX has not been evaluated in previous studies. Our aims were therefore: (1) to assess stature in 305 patients with sex chromosome aneuploidy and (2) to determine the number of SHOX copies in a subgroup of these patients (n = 255) these patients and 74 healthy controls. Median height standard deviation scores in 46,XX males (n = 6) were -1.2 (-2.8 to 0.3), +0.9 (-2.2 to +4.6) in 47,XXY (n = 129), +1.3 (-1.8 to +4.9) in 47,XYY (n = 44), +1.1 (-1.9 to +3.4) in 48,XXYY (n = 45), +1.8 (-2.0 to +3.2) in 48,XXXY (n = 9), and -1.8 (-4.2 to -0.1) in 49,XXXXY (n = 10). Median height standard deviation scores in patients with 45,X (n = 6) were -2.6 (-4.1 to -1.6), +0.7 (-0.9 to +3.2) in 47,XXX (n = 40), -0.6 (-1.9 to +2.1) in 48,XXXX (n = 13), and -1.0 (-3.5 to -0.8) in 49,XXXXX (n = 3). Height increased with an increasing number of extra X or Y chromosomes, except in males with five, and in females with four or five sex chromosomes, consistent with a nonlinear effect on height.
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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.