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Volumn 5, Issue 3, 2011, Pages 109-123

Chromosomal variants in Klinefelter syndrome

Author keywords

Chromosome; Klinefelter syndrome; Sex chromosome abnormalities

Indexed keywords

FEMALE; GENETICS; HUMAN; KARYOTYPING; KLINEFELTER SYNDROME; MALE; REVIEW; SEX CHROMOSOME ABERRATION; X CHROMOSOME; Y CHROMOSOME;

EID: 79958770376     PISSN: 16615425     EISSN: 16615433     Source Type: Journal    
DOI: 10.1159/000327324     Document Type: Review
Times cited : (72)

References (76)
  • 1
    • 14044259394 scopus 로고    scopus 로고
    • Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: Reproductive risk evaluation
    • DOI 10.1093/humrep/deh598
    • Arnedo N, Nogues C, Bosch M, Templado C: Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation. Hum Reprod 20: 462-468 (2005). (Pubitemid 40277618)
    • (2005) Human Reproduction , vol.20 , Issue.2 , pp. 462-468
    • Arnedo, N.1    Nogues, C.2    Bosch, M.3    Templado, C.4
  • 4
    • 34147152346 scopus 로고    scopus 로고
    • Klinefelter syndrome in clinical practice
    • DOI 10.1038/ncpuro0775, PII NCPURO0775
    • Bojesen A, Gravholt CH: Klinefelter syndrome in clinical practice. Nat Clin Pract Urol 4: 192-204 (2007). (Pubitemid 46567152)
    • (2007) Nature Clinical Practice Urology , vol.4 , Issue.4 , pp. 192-204
    • Bojesen, A.1    Gravholt, C.H.2
  • 7
    • 15244353967 scopus 로고    scopus 로고
    • X-inactivation profile reveals extensive variability in X-linked gene expression in females
    • DOI 10.1038/nature03479
    • Carrel L, Willard HF: X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434: 400-404 (2005). (Pubitemid 40469185)
    • (2005) Nature , vol.434 , Issue.7031 , pp. 400-404
    • Carrel, L.1    Willard, H.F.2
  • 11
    • 71949105699 scopus 로고    scopus 로고
    • Rare rearrangements: A 'jumping satellite' in one family and autosomal location of the SRY gene in an XX male
    • Chien SC, Li YC, Ho M, Hsu PC, Teng RH, et al: Rare rearrangements: a 'jumping satellite' in one family and autosomal location of the SRY gene in an XX male. Am J Med Genet A 149A:2775-2781 (2009).
    • (2009) Am J Med Genet A , vol.149 A , pp. 2775-2781
    • Chien, S.C.1    Li, Y.C.2    Ho, M.3    Hsu, P.C.4    Teng, R.H.5
  • 13
    • 0015265706 scopus 로고
    • Analytic review: Nature and origin of males with XX sex chromosomes
    • de la Chapelle A: Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet 24: 71-105 (1972).
    • (1972) Am J Hum Genet , vol.24 , pp. 71-105
    • De La Chapelle, A.1
  • 14
    • 70350176037 scopus 로고    scopus 로고
    • The clinical effects of isochromosome Xq in Klinefelter syndrome: Report of a case and review of literature
    • Demirhan O, Pazarbasi A, Tanriverdi N, Aridogan A, Karahan D: The clinical effects of isochromosome Xq in Klinefelter syndrome: report of a case and review of literature. Genet Couns 20: 235-242 (2009).
    • (2009) Genet Couns , vol.20 , pp. 235-242
    • Demirhan, O.1    Pazarbasi, A.2    Tanriverdi, N.3    Aridogan, A.4    Karahan, D.5
  • 16
    • 60549113494 scopus 로고    scopus 로고
    • 46,XX SRYnegative true hermaphrodite siblings
    • Dorsey FY, Hsieh MH, Roth DR: 46,XX SRYnegative true hermaphrodite siblings. Urology 73: 529-531 (2009).
    • (2009) Urology , vol.73 , pp. 529-531
    • Dorsey, F.Y.1    Hsieh, M.H.2    Roth, D.R.3
  • 18
    • 0014029835 scopus 로고
    • X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome
    • Ferguson-Smith MA: X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 2: 475-476 (1966).
    • (1966) Lancet , vol.2 , pp. 475-476
    • Ferguson-Smith, M.A.1
  • 19
    • 0019620131 scopus 로고
    • Klinefelter syndrome and the Xq11-22 region
    • Fryns JP: Klinefelter syndrome and the Xq11-22 region. Clin Genet 20: 237 (1981).
    • (1981) Clin Genet , vol.20 , pp. 237
    • Fryns, J.P.1
  • 20
    • 0018575213 scopus 로고
    • A case of complete testicular feminisation and 47,XXY karyotype
    • Gerli M, Migliorini G, Bocchini V, Venti G, Ferrarese R, et al: A case of complete testicular feminisation and 47,XXY karyotype. J Med Genet 16: 480-483 (1979). (Pubitemid 10186513)
    • (1979) Journal of Medical Genetics , vol.16 , Issue.6 , pp. 480-483
    • Gerli, M.1    Migliorini, G.2    Bocchini, V.3
  • 21
    • 0013861056 scopus 로고
    • Testicular feminization in monozygotic twins with 47 chromosomes (XXY)
    • German J, Vesell M: Testicular feminization in monozygotic twins with 47 chromosomes (XXY). Ann Genet 9: 5-8 (1966).
    • (1966) Ann Genet , vol.9 , pp. 5-8
    • German, J.1    Vesell, M.2
  • 22
    • 69249219068 scopus 로고    scopus 로고
    • Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype
    • Girardin CM, Deal C, Lemyre E, Paquette J, Lumbroso R, et al: Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype. J Pediatr 155: 439-443 (2009).
    • (2009) J Pediatr , vol.155 , pp. 439-443
    • Girardin, C.M.1    Deal, C.2    Lemyre, E.3    Paquette, J.4    Lumbroso, R.5
  • 23
    • 77952769435 scopus 로고    scopus 로고
    • Clinical variability and novel neurodevelopmental findings in 49,XXXXY syndrome
    • Gropman AL, Rogol A, Fennoy I, Sadeghin T, Sinn S, et al: Clinical variability and novel neurodevelopmental findings in 49,XXXXY syndrome. Am J Med Genet A 152A:1523- 1530 (2010).
    • (2010) Am J Med Genet A , vol.152 A , pp. 1523-1530
    • Gropman, A.L.1    Rogol, A.2    Fennoy, I.3    Sadeghin, T.4    Sinn, S.5
  • 24
    • 11844262115 scopus 로고    scopus 로고
    • Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with klinefelter syndrome
    • DOI 10.1002/ajmg.a.30446
    • Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG: Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome. Am J Med Genet A 132A:198-201 (2005). (Pubitemid 40093333)
    • (2005) American Journal of Medical Genetics , vol.132 A , Issue.2 , pp. 198-201
    • Heinritz, W.1    Kotzot, D.2    Heinze, S.3    Kujat, A.4    Kleemann, W.J.5    Froster, U.G.6
  • 25
    • 55149094309 scopus 로고    scopus 로고
    • Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant
    • Höckner M, Pinggera GM, Gunther B, Sergi C, Fauth C, et al: Unravelling the parental origin and mechanism of formation of the 47,XY,i(X)(q10) Klinefelter karyotype variant. Fertil Steril 90: 2009.e13-7 (2008).
    • (2008) Fertil Steril , vol.90
    • Höckner, M.1    Pinggera, G.M.2    Gunther, B.3    Sergi, C.4    Fauth, C.5
  • 27
    • 33747686159 scopus 로고
    • A case of human intersexuality having a possible XXY sex-determining mechanism
    • Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183: 302-303 (1959).
    • (1959) Nature , vol.183 , pp. 302-303
    • Jacobs, P.A.1    Strong, J.A.2
  • 28
    • 0023682678 scopus 로고
    • Klinefelter's syndrome: An analysis of the origin of the additional sex chromosome using molecular probes
    • Jacobs PA, Hassold TJ, Whittington E, Butler G, Collyer S, et al: Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 52: 93-109 (1988).
    • (1988) Ann Hum Genet , vol.52 , pp. 93-109
    • Jacobs, P.A.1    Hassold, T.J.2    Whittington, E.3    Butler, G.4    Collyer, S.5
  • 29
    • 85003166195 scopus 로고
    • Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, increased excretion of follicle stimulating hormone
    • Klinefelter HF, Reifenstein EC, Albright F: Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, increased excretion of follicle stimulating hormone. J Clin Endocrinol 2: 615-627 (1942).
    • (1942) J Clin Endocrinol , vol.2 , pp. 615-627
    • Klinefelter, H.F.1    Reifenstein, E.C.2    Albright, F.3
  • 30
    • 3242707769 scopus 로고    scopus 로고
    • Klinefelter's syndrome
    • DOI 10.1016/S0140-6736(04)16678-6, PII S0140673604166786
    • Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E: Klinefelter's syndrome. Lancet 364: 273-283 (2004). (Pubitemid 38942818)
    • (2004) Lancet , vol.364 , Issue.9430 , pp. 273-283
    • Lanfranco, F.1    Kamischke, A.2    Zitzmann, M.3    Nieschlag, P.E.4
  • 31
    • 73849105651 scopus 로고    scopus 로고
    • Effects of sex chromosome aneuploidies on brain development: Evidence from neuroimaging studies
    • Lenroot RK, Lee NR, Giedd JN: Effects of sex chromosome aneuploidies on brain development: evidence from neuroimaging studies. Dev Disabil Res Rev 15: 318-327 (2009).
    • (2009) Dev Disabil Res Rev , vol.15 , pp. 318-327
    • Lenroot, R.K.1    Lee, N.R.2    Giedd, J.N.3
  • 32
  • 35
    • 0025096624 scopus 로고
    • Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization
    • Müller U, Schneider NR, Marks JF, Kupke KG, Wilson GN: Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet 84: 289-292 (1990). (Pubitemid 20061325)
    • (1990) Human Genetics , vol.84 , Issue.3 , pp. 289-292
    • Muller, U.1    Schneider, N.R.2    Marks, J.F.3    Kupke, K.G.4    Wilson, G.N.5
  • 36
    • 77952206113 scopus 로고    scopus 로고
    • A 46,XX SRY -negative man with infertility, and co-existing with chronic autoimmune thyroiditis
    • Mustafa O, Mehmet E: A 46,XX SRY -negative man with infertility, and co-existing with chronic autoimmune thyroiditis. Gynecol Endocrinol 26: 413-415 (2010).
    • (2010) Gynecol Endocrinol , vol.26 , pp. 413-415
    • Mustafa, O.1    Mehmet, E.2
  • 37
    • 0013914056 scopus 로고
    • Klinefelter's syndrome with a presumptive deleted X chromosome
    • Nielsen J: Klinefelter's syndrome with a presumptive deleted X chromosome. J Med Genet 3: 139-141 (1966).
    • (1966) J Med Genet , vol.3 , pp. 139-141
    • Nielsen, J.1
  • 38
    • 0036808139 scopus 로고    scopus 로고
    • Diabetes mellitus associated with Klinefelter's syndrome: A case report and review in Japan
    • Ota K, Suehiro T, Ikeda Y, Arii K, Kumon Y, Hashimoto K: Diabetes mellitus associated with Klinefelter's syndrome: a case report and review in Japan. Intern Med 41: 842-847 (2002). (Pubitemid 35314786)
    • (2002) Internal Medicine , vol.41 , Issue.10 , pp. 842-847
    • Ota, K.1    Suehiro, T.2    Ikeda, Y.3    Arii, K.4    Kumonand, Y.5    Hashimoto, K.6
  • 39
    • 77951758776 scopus 로고    scopus 로고
    • Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy
    • Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, et al: Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. Am J Med Genet A 152A:1206-1212 (2010).
    • (2010) Am J Med Genet A , vol.152 A , pp. 1206-1212
    • Ottesen, A.M.1    Aksglaede, L.2    Garn, I.3    Tartaglia, N.4    Tassone, F.5
  • 40
    • 0019452917 scopus 로고
    • Association of the x chromosomal region q11→22 and Klinefelter syndrome
    • Patil SR, Bartley JA, Hanson W: Association of the X chromosome region q11- 1 22 and Klinefelter syndrome. Clin Genet 19: 343-346 (1981). (Pubitemid 11032759)
    • (1981) Clinical Genetics , vol.19 , Issue.5 , pp. 343-346
    • Path, S.R.1    Bartley, J.A.2    Hanson, J.W.3
  • 41
    • 0014681296 scopus 로고
    • Abnormal sex chromosomes and mental disorders
    • Polani PE: Abnormal sex chromosomes and mental disorders. Nature 223: 680-686 (1969).
    • (1969) Nature , vol.223 , pp. 680-686
    • Polani, P.E.1
  • 48
  • 51
    • 0034843903 scopus 로고    scopus 로고
    • Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): Effects of incomplete X inactivation
    • DOI 10.1055/s-2001-15400
    • Samango-Sprouse C: Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects of incomplete X inactivation. Semin Reprod Med 19: 193-202 (2001). (Pubitemid 32847034)
    • (2001) Seminars in Reproductive Medicine , vol.19 , Issue.2 , pp. 193-202
    • Samango-Sprouse, C.1
  • 52
    • 79961223890 scopus 로고    scopus 로고
    • Y chromosome microdeletion in a case with Klinefelter's syndrome
    • DOI 10.1080/01485010600840780, PII J543560626008P6K
    • Samli H, Samli MM, Azgoz A, Solak M: Y chromosome microdeletion in a case with Klinefelter's syndrome. Arch Androl 52: 427-431 (2006). (Pubitemid 44529658)
    • (2006) Archives of Andrology , vol.52 , Issue.6 , pp. 427-431
    • Samli, H.1    Samli, M.M.2    Azgoz, A.3    Solak, M.4
  • 54
    • 18844411825 scopus 로고    scopus 로고
    • Variability of sexual phenotype in 46,XX(SRY+) patients: The influence of spreading X inactivation versus position effects
    • DOI 10.1136/jmg.2004.022053
    • Sharp A, Kusz K, Jaruzelska J, Tapper W, Szarras- Czapnik M, et al: Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects. J Med Genet 42: 420-427 (2005). (Pubitemid 40685684)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.5 , pp. 420-427
    • Sharp, A.1    Kusz, K.2    Jaruzelska, J.3    Tapper, W.4    Szarras-Czapnik, M.5    Wolski, J.6    Jacobs, P.7
  • 55
    • 70249147309 scopus 로고    scopus 로고
    • A neocentric isochromosome Yp present as additional small supernumerary marker chromosome-evidence against Utype exchange mechanism?
    • Sheth F, Ewers E, Kosyakova N, Weise A, Sheth J, et al: A neocentric isochromosome Yp present as additional small supernumerary marker chromosome-evidence against Utype exchange mechanism? Cytogenet Genome Res 125: 115-116 (2009).
    • (2009) Cytogenet Genome Res , vol.125 , pp. 115-116
    • Sheth, F.1    Ewers, E.2    Kosyakova, N.3    Weise, A.4    Sheth, J.5
  • 64
    • 11844303535 scopus 로고    scopus 로고
    • A 46,XX SRY-negative man with complete virilization and infertility as the main anomaly
    • DOI 10.1016/j.fertnstert.2004.06.055, PII S0015028204026172
    • Valetto A, Bertini V, Rapalini E, Simi P: A 46,XX SRY -negative man with complete virilization and infertility as the main anomaly. Fertil Steril 83: 216-219 (2005). (Pubitemid 40094807)
    • (2005) Fertility and Sterility , vol.83 , Issue.1 , pp. 216-219
    • Valetto, A.1    Bertini, V.2    Rapalini, E.3    Simi, P.4
  • 65
    • 0035077980 scopus 로고    scopus 로고
    • Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter's syndrome after long-term testosterone substitution
    • DOI 10.1007/s001980170158
    • van den Bergh JP, Hermus AR, Spruyt AI, Sweep CG, Corstens FH, Smals AG: Bone mineral density and quantitative ultrasound parameters in patients with Klinefelter's syndrome after long-term testosterone substitution. Osteoporos Int 12: 55-62 (2001). (Pubitemid 32233659)
    • (2001) Osteoporosis International , vol.12 , Issue.1 , pp. 55-62
    • Van Den Bergh, J.P.W.1    Hermus, A.R.M.M.2    Spruyt, A.I.3    Sweep, C.G.J.4    Corstens, F.H.M.5    Smals, A.G.H.6
  • 66
    • 77955946861 scopus 로고    scopus 로고
    • Clinical and behavioural profile of a rare variant of Klinefelter syndrome- 48,XXXY
    • Venkateshwari A, Srilekha A, Begum A, Sujatha M, Rani PU, et al: Clinical and behavioural profile of a rare variant of Klinefelter syndrome- 48,XXXY. Indian J Pediatr 77: 447- 449 (2010).
    • (2010) Indian J Pediatr , vol.77 , pp. 447-449
    • Venkateshwari, A.1    Srilekha, A.2    Begum, A.3    Sujatha, M.4    Rani, P.U.5
  • 67
    • 34248156426 scopus 로고    scopus 로고
    • Klinefelter syndrome and other sex chromosomal aneuploidies
    • Visootsak J, Graham JM Jr: Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 1: 42 (2006).
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 42
    • Visootsak, J.1    Graham Jr., J.M.2
  • 68
    • 73849109433 scopus 로고    scopus 로고
    • Social function in multiple X and y chromosome disorders: XXY, XYY, XXYY, XXXY
    • Visootsak J, Graham JM Jr: Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev 15: 328-332 (2009).
    • (2009) Dev Disabil Res Rev , vol.15 , pp. 328-332
    • Visootsak, J.1    Graham Jr., J.M.2
  • 69
    • 0035214974 scopus 로고    scopus 로고
    • Klinefelter syndrome and its variants: An update and review for the primary pediatrician
    • Visootsak J, Aylstock M, Graham JM Jr: Klinefelter syndrome and its variants: an update and review for the primary pediatrician. Clin Pediatr (Phila) 40: 639-651 (2001). (Pubitemid 33139165)
    • (2001) Clinical Pediatrics , vol.40 , Issue.12 , pp. 639-651
    • Visootsak, J.1    Aylstock, M.2    Graham Jr., J.M.3
  • 71
    • 58449104199 scopus 로고    scopus 로고
    • 46,XX male sex reversal syndrome: A case report and review of the genetic basis
    • Wang T, Liu JH, Yang J, Chen J, Ye ZQ: 46,XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia 41: 59-62 (2009).
    • (2009) Andrologia , vol.41 , pp. 59-62
    • Wang, T.1    Liu, J.H.2    Yang, J.3    Chen, J.4    Ye, Z.Q.5
  • 73
    • 44949190511 scopus 로고    scopus 로고
    • Testicular function in Klinefelter syndrome
    • DOI 10.1159/000117387
    • Wikstrom AM, Dunkel L: Testicular function in Klinefelter syndrome. Horm Res 69: 317-326 (2008). (Pubitemid 351809495)
    • (2008) Hormone Research , vol.69 , Issue.6 , pp. 317-326
    • Wikstrom, A.M.1    Dunkel, L.2
  • 74
    • 0014477339 scopus 로고
    • Klinefelter's syndrome with chromosome pattern 47 XXpiY. A new genetic variant of the syndrome
    • Zang KD, Singer H, Loeffler L, Souvatzoglou, Halbfass J, Mehnert H: Klinefelter's syndrome with chromosome pattern 47, XXpiY. A new genetic variant of the syndrome. Klin Wochenschr 47: 237-244 (1969).
    • (1969) Klin Wochenschr , vol.47 , pp. 237-244
    • Zang, K.D.1    Singer, H.2    Loeffler, L.3    Souvatzoglou4    Halbfass, J.5    Mehnert, H.6
  • 76
    • 73949146064 scopus 로고    scopus 로고
    • A case of 48,XXYY syndrome detected prenatally by QF-PCR
    • Zhang QS, Li DZ: A case of 48,XXYY syndrome detected prenatally by QF-PCR. J Matern Fetal Neonatal Med 22: 1214-1216 (2009).
    • (2009) J Matern Fetal Neonatal Med , vol.22 , pp. 1214-1216
    • Zhang, Q.S.1    Li, D.Z.2


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