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Quoted phrase not found in phrase index: "48,XXXY syndrome"
Page 1
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 …
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 48,X …
The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a n …
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 …
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 …
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham JM. Visootsak J, et al. J Pediatr. 2004 Dec;145(6):819-25. doi: 10.1016/j.jpeds.2004.07.041. J Pediatr. 2004. PMID: 15580208
Participants included 10 with BFLS, 10 with Prader-Willi syndrome, and 23 with Klinefelter syndrome variants (13 with 48,XXYY, 4 with 48,XXXY, and 6 with 49,XXXXY). ...Men with BFLS also had lower internalizing and externalizing symptoms and appeared m …
Participants included 10 with BFLS, 10 with Prader-Willi syndrome, and 23 with Klinefelter syndrome variants (13 with 48,XXYY, …
Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).
Alowaysi M, Fiacco E, Astro V, Adamo A. Alowaysi M, et al. Stem Cell Res. 2020 Dec;49:102098. doi: 10.1016/j.scr.2020.102098. Epub 2020 Nov 24. Stem Cell Res. 2020. PMID: 33254093 Free article.
Klinefelter Syndrome (KS) is the most common aneuploidy in humans (prevalence: 85-250 per 100,000 born males) and is characterized by one or more supernumerary X-chromosomes (47-XXY, 48-XXXY and 49-XXXXY karyotypes). ...Using a non-integrative mRNAs reprogram …
Klinefelter Syndrome (KS) is the most common aneuploidy in humans (prevalence: 85-250 per 100,000 born males) and is characterized by …
Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.
Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Mitra A, et al. Asian J Androl. 2006 Jan;8(1):81-8. doi: 10.1111/j.1745-7262.2006.00083.x. Asian J Androl. 2006. PMID: 16372123 Free article.
AIM: To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS). METHODS: Blood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). ...Ka …
AIM: To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS). METHODS: Blood …
Association between venous leg ulcers and sex chromosome anomalies in men.
Gattringer C, Scheurecker C, Höpfl R, Müller H. Gattringer C, et al. Acta Derm Venereol. 2010 Nov;90(6):612-5. doi: 10.2340/00015555-0949. Acta Derm Venereol. 2010. PMID: 21057745 Free article.
We report here two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrations: one with a 47,XXY/48,XXXY karyotype (Klinefelter syndrome) and the other with a 47,XYY karyotype (Jacob syndrom …
We report here two cases of men, aged 46 and 23 years, with refractory chronic venous leg ulcers in association with sex chromosome aberrati …
Evaluation of multiple-marker screening for Down syndrome in a statewide population.
Wenstrom KD, Williamson RA, Grant SS, Hudson JD, Getchell JP. Wenstrom KD, et al. Am J Obstet Gynecol. 1993 Oct;169(4):793-7. doi: 10.1016/0002-9378(93)90007-6. Am J Obstet Gynecol. 1993. PMID: 7694460
Amniocentesis and aneuploidy detection rates were compared with the experience of a previous year (1989-1990) in which material serum alpha-fetoprotein was used for detection of Down syndrome. RESULTS: Positive screening tests (Down syndrome risk > or = 1/190) oc …
Amniocentesis and aneuploidy detection rates were compared with the experience of a previous year (1989-1990) in which material serum alpha- …
Cytogenetic studies in a selected group of mentally retarded children.
Moghe M, Patel ZM, Peter JJ, Ambani LM. Moghe M, et al. Hum Genet. 1981;58(2):184-7. doi: 10.1007/BF00278708. Hum Genet. 1981. PMID: 6456981
Three patients had 45,X and one had a 45,X/46,Xr(X) karyotype. Other sex chromosomal abnormalities were 46,XX/48,XXXX; 48,XXXY/49,XXXXY; and 48,XXYY. Autosomal abnormalities were 46,XX,1q-; 46,XY,2q-; 46,XY,5p-; 46,XY,dup(5p); 45,XX,t(13,14); and 46,XY,17p-. ...
Three patients had 45,X and one had a 45,X/46,Xr(X) karyotype. Other sex chromosomal abnormalities were 46,XX/48,XXXX; 48,XXXY …
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