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Description
Klinefelter Syndrome (KS) is a non-mendelian chromosomal disorder consisting of supernumerary X chromosomes in males, 80% of which manifest as the 47,XXY karyotype. The resulting gene dosage abnormalities affect both cognitive and physical development, with variable expressivity. The disease was first described by Harry Klinefelter in 1942 and was thought to be an endocrine disorder until the late 1950s, when karyotyping of affected individuals revealed an extra X chromosome.
(It is the most common sex chromosome aneuploidy (1:500 males) and the most common cause of azoospermia. The phenotype for KS is highly contested due to its extremely variable expressivity and the extreme heterogeneity in its clinical and genetic presentation.
Publisher Location
Las Vegas (Nev.)
Publication Date
Fall 12-8-2023
Publisher
University of Nevada, Las Vegas
Language
English
Controlled Subject
Human genetics; Klinefelter's syndrome; Diseases
Disciplines
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Genetics
File Format
File Size
2210 KB
Recommended Citation
Chevalier, Emma; Venegas, Tyler; and Salibi, Mary, "A Timeline of Klinefelter’s Syndrome, XXY" (2023). Undergraduate Research Symposium Posters. 197.
https://digitalscholarship.unlv.edu/durep_posters/197
Rights
IN COPYRIGHT. For more information about this rights statement, please visit http://rightsstatements.org/vocab/InC/1.0/
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons, Genetics Commons
Comments
Faculty Mentor: Kathryn Rafferty