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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.
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and …
Sex chromosome tetrasomy and pentasomy conditions occur in 1:18,000-1:100,000 male births. While often compared with 47,XXY/Klinefelter s …
Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: a review and case report.
Joseph M. Joseph M. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 May;105(5):670-7. doi: 10.1016/j.tripleo.2007.11.015. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008. PMID: 18442747 Review.
Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. ...The objective of this report is to review the general characteristics and dentofacial manifestations of KS, specifically taurodontism, and present a patient with the 48,XXXY va …
Klinefelter syndrome (KS) is the most common chromosomal abnormality in humans. ...The objective of this report is to review the gene …
Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations.
Gropman A, Samango-Sprouse CA. Gropman A, et al. Am J Med Genet C Semin Med Genet. 2013 Feb 15;163C(1):35-43. doi: 10.1002/ajmg.c.31352. Epub 2013 Jan 18. Am J Med Genet C Semin Med Genet. 2013. PMID: 23335129 Review.
The most common sex chromosome aneuploidy is 47, XXY for which there is a rich literature delineating the physical and neurobehavioral phenotype. Although the more complex chromosome aneuploidies 48, XXYY, 48, XXXY, and 49, XXXXY are often compared with 47, X …
The most common sex chromosome aneuploidy is 47, XXY for which there is a rich literature delineating the physical and neurobehavioral pheno …
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 Free article. Review.
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. ...Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der( …
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every …
Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation.
Samango-Sprouse C. Samango-Sprouse C. Semin Reprod Med. 2001 Jun;19(2):193-202. doi: 10.1055/s-2001-15400. Semin Reprod Med. 2001. PMID: 11480917 Review.
However, the research studies of boys with XXY (Klinefelter syndrome) have been plagued by a variety of factors from small sample size, methodological flaws, and ascertainment bias. ...
However, the research studies of boys with XXY (Klinefelter syndrome) have been plagued by a variety of factors from small sample siz …
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.
The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. ...Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 4 …
The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a n …
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M. Demily C, et al. BMC Med Genet. 2017 Jan 31;18(1):9. doi: 10.1186/s12881-017-0371-1. BMC Med Genet. 2017. PMID: 28137251 Free PMC article. Review.
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chro …
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner s …
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, …