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Year Number of Results
2015 8
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2017 15
2018 11
2019 11
2020 14
2021 13
2022 16
2023 12
2024 14
2025 1

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103 results

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Page 1
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 …
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, …
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 …
Systemic lupus erythematosus with trisomy X: a case report and review of the literature.
Luo F, Ye Q, Shen J. Luo F, et al. J Med Case Rep. 2022 Jul 19;16(1):281. doi: 10.1186/s13256-022-03478-5. J Med Case Rep. 2022. PMID: 35850774 Free PMC article. Review.
CASE PRESENTATION: We report a 17-year-old Chinese female patient with systemic lupus erythematosus complicated with trisomy X, accompanied by lupus nephritis, pancytopenia, hemolytic anemia, and multiserous effusion. ...
CASE PRESENTATION: We report a 17-year-old Chinese female patient with systemic lupus erythematosus complicated with trisomy X …
Sella Turcica Shape in Fragile X Syndrome.
Friedrich RE. Friedrich RE. In Vivo. 2021 Nov-Dec;35(6):3581-3584. doi: 10.21873/invivo.12662. In Vivo. 2021. PMID: 34697198 Free PMC article.
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 …
103 results