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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1961 2
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1963 6
1964 5
1965 2
1966 3
1967 4
1969 2
1970 4
1971 6
1972 3
1973 2
1974 2
1975 4
1976 1
1977 7
1978 8
1980 1
1981 2
1982 6
1984 1
1985 3
1986 4
1987 2
1988 6
1989 1
1990 4
1991 5
1992 4
1993 3
1994 2
1995 5
1997 2
1998 2
1999 5
2000 2
2001 2
2002 1
2003 1
2004 3
2005 3
2006 4
2007 7
2008 3
2009 5
2010 3
2011 5
2012 4
2013 5
2014 1
2015 4
2016 3
2017 3
2018 4
2019 4
2020 12
2021 8
2023 3
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203 results

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Page 1
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. Tartaglia N, et al. Acta Paediatr. 2011 Jun;100(6):851-60. doi: 10.1111/j.1651-2227.2011.02235.x. Epub 2011 Apr 8. Acta Paediatr. 2011. PMID: 21342258 Free PMC article. Review.
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 pr …
While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, …
49, XXXXY syndrome.
Hou JW. Hou JW. Chang Gung Med J. 2004 Jul;27(7):551-4. Chang Gung Med J. 2004. PMID: 15508879 Free article.
49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical h …
49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomali …
49,XXXXY syndrome.
Pallister PD. Pallister PD. Am J Med Genet. 1982 Nov;13(3):337-9. doi: 10.1002/ajmg.1320130320. Am J Med Genet. 1982. PMID: 7180880 No abstract available.
Neurocognitive development and capabilities in boys with 49,XXXXY syndrome.
Gropman AL, Porter GF, Lasutschinkow PC, Sadeghin T, Tipton ES, Powell S, Samango-Sprouse CA. Gropman AL, et al. Am J Med Genet A. 2021 Dec;185(12):3541-3546. doi: 10.1002/ajmg.a.61736. Epub 2020 Jul 14. Am J Med Genet A. 2021. PMID: 32662248
49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replaceme …
49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognit …
From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.
Spaziani M, Carlomagno F, Tarantino C, Angelini F, Paparella R, Tarani L, Putotto C, Badagliacca R, Pozza C, Isidori AM, Gianfrilli D. Spaziani M, et al. J Clin Endocrinol Metab. 2024 Jul 12;109(8):e1564-e1573. doi: 10.1210/clinem/dgad730. J Clin Endocrinol Metab. 2024. PMID: 38193351 Free PMC article.
DESIGN AND METHODS: In a cross-sectional study, we compared 23 subjects with HGAs and 46 age-matched subjects with 47,XXY Klinefelter syndrome (KS), according to the number of extra-Xs: two (47,XXY and 48,XXYY), three (48,XXXY and 49,XXXYY), or four supernumerary Xs (49, …
DESIGN AND METHODS: In a cross-sectional study, we compared 23 subjects with HGAs and 46 age-matched subjects with 47,XXY Klinefelter syndro …
Speech and language development in children with 49,XXXXY syndrome.
Samango-Sprouse CA, Lasutschinkow PC, McLeod M, Porter GF, Powell S, St Laurent J, Sadeghin T, Gropman AL. Samango-Sprouse CA, et al. Am J Med Genet A. 2021 Dec;185(12):3567-3575. doi: 10.1002/ajmg.a.61767. Epub 2020 Jul 28. Am J Med Genet A. 2021. PMID: 32725750
49,XXXXY is the rarest X and Y chromosomal variation and is frequently characterized by expressive and receptive language dysfunction, low muscle tonus, and intellectual deficits. ...These findings may assist in facilitating more targeted treatment and improved outc …
49,XXXXY is the rarest X and Y chromosomal variation and is frequently characterized by expressive and receptive language dysf …
49,XXXXX syndrome.
Fragoso R, Hernandez A, Plascencia ML, Nazara Z, Martinez y Martinez R, Cantu JM. Fragoso R, et al. Ann Genet. 1982;25(3):145-8. Ann Genet. 1982. PMID: 6982661
The apparent stronger selection against 49,XXXXX aneuploidy versus the 49,XXXXY suggested by the much higher frequency of the latter is probably due to the more severe congenital cardiopathy which may be related to the number of inactivated X chromosomes....
The apparent stronger selection against 49,XXXXX aneuploidy versus the 49,XXXXY suggested by the much higher frequency of the …
The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy.
Samango-Sprouse CA, Hamzik MP, Gropman E, Brooks MR, Powell S, Taylor AM, Sadeghin T, Gropman AL. Samango-Sprouse CA, et al. Genet Med. 2023 Jul;25(7):100847. doi: 10.1016/j.gim.2023.100847. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37061875 Free article.
PURPOSE: 49,XXXXY (1:85,000-100,000) is a rare sex chromosome aneuploidy that often presents with complex musculoskeletal abnormalities, decreased cognitive capabilities, speech and language dysfunction, and behavioral complications. ...CONCLUSION: This study presen …
PURPOSE: 49,XXXXY (1:85,000-100,000) is a rare sex chromosome aneuploidy that often presents with complex musculoskeletal abno …
DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study.
Lee RS, Song SQ, Garrison-Desany HM, Carey JL, Lasutschinkow P, Zabel A, Bressler J, Gropman A, Samango-Sprouse C. Lee RS, et al. Clin Epigenetics. 2021 Jul 1;13(1):136. doi: 10.1186/s13148-021-01123-4. Clin Epigenetics. 2021. PMID: 34210361 Free PMC article.
RESULTS: Two parental questionnaires, the Behavior Rating Inventory of Executive Function (BRIEF) and Child Behavior Checklist (CBCL), were analyzed, and they showed expected differences in both internal and external behaviors between neurotypical (46,XY) boys and boys with 49 …
RESULTS: Two parental questionnaires, the Behavior Rating Inventory of Executive Function (BRIEF) and Child Behavior Checklist (CBCL), were …
49,XXXXY syndrome: A study of neurological function in this uncommon X and Y chromosomal disorder.
Samango-Sprouse C, Lasutschinkow PC, Mitchell F, Porter GF, Hendrie P, Powell S, Sadeghin T, Gropman A. Samango-Sprouse C, et al. Am J Med Genet A. 2021 Dec;185(12):3557-3566. doi: 10.1002/ajmg.a.61742. Epub 2020 Jul 13. Am J Med Genet A. 2021. PMID: 32656941
49,XXXXY is a rare chromosomal variation characterized by deficits in motor, language, and cognitive domains. This study reports on the neurological function and dysmorphic features in the largest cohort to date. Seventy-two boys with 49,XXXXY were eva …
49,XXXXY is a rare chromosomal variation characterized by deficits in motor, language, and cognitive domains. This study repor …
203 results