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2016 3
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The epidemiology of sex chromosome abnormalities.
Berglund A, Stochholm K, Gravholt CH. Berglund A, et al. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):202-215. doi: 10.1002/ajmg.c.31805. Epub 2020 Jun 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32506765 Review.
Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-known syndromes being Turner syndrome, Klinefelter syndrome, 47,XXX syndrome, and 47,XYY syndrome. Since these syndromes were fi …
Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex chromosomes or parts of sex chromosomes with the best-kn …
A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.
Yang X, Ye Z, Zhang X, Wang H, Liu C. Yang X, et al. Leg Med (Tokyo). 2017 Jul;27:38-42. doi: 10.1016/j.legalmed.2017.06.006. Epub 2017 Jun 30. Leg Med (Tokyo). 2017. PMID: 28697408
Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, XX karyotype in typical females. ...Advanced maternal age was found acting as a significant risk factor of Triplo-X. Moreover, …
Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, …
Tall stature in children and adolescents.
Urakami T. Urakami T. Minerva Pediatr. 2020 Dec;72(6):472-483. doi: 10.23736/S0026-4946.20.05971-X. Epub 2020 Aug 4. Minerva Pediatr. 2020. PMID: 32748612 Review.
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious puberty and lipodystrophy, chromosome disorders, such as Trisomy X (47, XXX female), Klinefelter Syndrome (47, XXY), XYY syndrom …
Pathological causes for tall statute include endocrine disorders, such as excessive growth hormone secretion, hyperthyroidism, precocious pu …
The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study.
Berglund A, Stochholm K, Gravholt CH. Berglund A, et al. Genet Med. 2022 Feb;24(2):475-487. doi: 10.1016/j.gim.2021.10.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906506 Free article.
PURPOSE: This study aimed to describe the comorbidity pattern in 47,XXX syndrome. METHODS: This was a registry-based study of hospital diagnoses and prescribed medication in a nationwide cohort of females with 47,XXX (n = 103) and 46,XX/47,XXX (n = 57) in which they …
PURPOSE: This study aimed to describe the comorbidity pattern in 47,XXX syndrome. METHODS: This was a registry-based study of …
Sex chromosome aneuploidies.
Skuse D, Printzlau F, Wolstencroft J. Skuse D, et al. Handb Clin Neurol. 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. Handb Clin Neurol. 2018. PMID: 29325624 Review.
We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underly …
We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, …
Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies.
Carl A, Bothwell S, Farah F, Swenson K, Hong D, Prakash S, Strang J, Tartaglia N, Raznahan A, Ross J; INSIGHTS Consortium; GALAXY Consortium; Davis S. Carl A, et al. Am J Med Genet A. 2025 Jun;197(6):e63998. doi: 10.1002/ajmg.a.63998. Epub 2025 Feb 15. Am J Med Genet A. 2025. PMID: 39953941
Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47, XXY), Turner syndrome (45, X and variants), Double Y syndrome (47, XYY), Trisomy X (47, XXX), and rarer tetrasomies and pentasomies. Individuals with SCAs experience a wid …
Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47, XXY), Turner syndrome (45, X and variants), D …
The emotional journey of adapting to prenatally identified trisomy X.
Thompson T, Tisher J, Davis S, Miller C, Kirk J, Tartaglia N, Howell S. Thompson T, et al. J Genet Couns. 2024 Aug;33(4):793-804. doi: 10.1002/jgc4.1778. Epub 2023 Sep 10. J Genet Couns. 2024. PMID: 37691399 Free PMC article.
There is a paucity of research on the experiences of parents of children with trisomy X (47,XXX). Increased prenatal diagnoses associated with advances in noninvasive prenatal screening necessitate a better understanding of how trisomy X impacts family …
There is a paucity of research on the experiences of parents of children with trisomy X (47,XXX). Increased prenatal diagnoses …
110 results