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

Year Number of Results
1960 1
1961 1
1962 3
1963 2
1964 2
1965 9
1966 1
1967 1
1968 1
1969 3
1970 5
1971 3
1972 3
1973 5
1974 3
1975 1
1976 3
1977 2
1978 2
1979 2
1980 3
1981 4
1982 2
1983 1
1984 1
1985 2
1986 2
1987 3
1988 1
1989 4
1991 2
1992 2
1993 1
1994 3
1995 4
1996 1
1997 3
1998 3
1999 1
2000 1
2001 2
2003 3
2004 3
2005 1
2006 3
2007 3
2008 3
2009 6
2010 6
2011 3
2012 4
2013 5
2015 2
2016 4
2017 4
2018 3
2019 3
2020 6
2021 6
2022 3
2023 3
2024 7
2025 5
2026 1

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178 results

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Page 1
Karyotype XX/XY/XXY/XXXY in a Klinefelter patient.
Ekwall B, Bergman S, Reitalu J. Ekwall B, et al. Hereditas. 1971;69(1):140-5. doi: 10.1111/j.1601-5223.1971.tb02428.x. Hereditas. 1971. PMID: 4142016 Free article. No abstract available.
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, med …
While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, …
Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY.
Moser E, Olaya M, Gropman A, Sadeghin T, Samango-Sprouse C. Moser E, et al. Front Endocrinol (Lausanne). 2025 Nov 26;16:1688843. doi: 10.3389/fendo.2025.1688843. eCollection 2025. Front Endocrinol (Lausanne). 2025. PMID: 41384014 Free PMC article.
A greater understanding of these mechanisms would inform medical providers and families of children with 47,XXY, or Klinefelter syndrome (KS), and variant disorders (48,XXXY and 49,XXXXY). This study investigates miscarriage incidences across a cohort of mothers of …
A greater understanding of these mechanisms would inform medical providers and families of children with 47,XXY, or Klinefelter syndrome (KS …
Genetic Diversity on the Sex Chromosomes.
Wilson Sayres MA. Wilson Sayres MA. Genome Biol Evol. 2018 Apr 1;10(4):1064-1078. doi: 10.1093/gbe/evy039. Genome Biol Evol. 2018. PMID: 29635328 Free PMC article. Review.
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 supernume …
DESIGN AND METHODS: In a cross-sectional study, we compared 23 subjects with HGAs and 46 age-matched subjects with 47,XXY Klinefelter syndro …
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D. Frühmesser A, et al. Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Epub 2011 Apr 29. Sex Dev. 2011. PMID: 21540567 Review.
Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der(Y), 47,X,der(X),Y, or other numeric sex chromosome abnormalities (48,XXXY, 48,XXYY, and 49,XXXXY). The focus of this review was to abstract t …
Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der(Y), 47,X,der(X),Y, or …
Sex chromosome tetrasomy and pentasomy.
Linden MG, Bender BG, Robinson A. Linden MG, et al. Pediatrics. 1995 Oct;96(4 Pt 1):672-82. Pediatrics. 1995. PMID: 7567329 Review.
The purpose of this article is to summarize what is known about these conditions and to present 10 additional cases. The karyotypes include, 48,XXXX, 49,XXXXX, 48,XXYY, 48,XXXY, 49,XXXXY, 49,XXXYY, 48,XYYY, 49,XYYYY, and 49,XXYYY....
The purpose of this article is to summarize what is known about these conditions and to present 10 additional cases. The karyotypes include, …
Klinefelter syndrome and other sex chromosomal aneuploidies.
Visootsak J, Graham JM Jr. Visootsak J, et al. Orphanet J Rare Dis. 2006 Oct 24;1:42. doi: 10.1186/1750-1172-1-42. Orphanet J Rare Dis. 2006. PMID: 17062147 Free PMC article. Review.
Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. ...
Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY
Unusual XX/XY chimerism.
Iselius L, Lambert B, Lindsten J, Tippett P, Gavin J, Daniels G, Yates A, Ritzén M, Sandstedt B. Iselius L, et al. Ann Hum Genet. 1979 Oct;43(2):89-96. doi: 10.1111/j.1469-1809.1979.tb02000.x. Ann Hum Genet. 1979. PMID: 575030
178 results