Klinefelter syndrome and other sex chromosomal aneuploidies

Orphanet Journal of Rare Diseases

Volumn 1, Issue 1, 2006, Pages

  Visootsak, Jeannie ^a   Graham Jr , John M ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; ANEUPLOIDY; CHILD; GENETICS; HUMAN; KARYOTYPING; KLINEFELTER SYNDROME; MALE; PATHOLOGY; REVIEW; SEX CHROMOSOME ABERRATION; X CHROMOSOME;

ADULT; AGE FACTORS; ANEUPLOIDY; CHILD; CHROMOSOMES, HUMAN, X; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE; SEX CHROMOSOME ABERRATIONS;

EID: 34248156426     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-1-42     Document Type: Review

References (29)

1. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. HF Klinefelter EC Reifenstein F Albright, J Clin Endocrinol Metab 1942 2 615 627
2. A case of human intersexuality having possible XXY sex-determining mechanism. PA Jacobs JA Strong, Nature 1959 2 164 167
3. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arthus, Denmark. J Nielsen M Wohlert, Children and Young Adults with Sex Chromosome Aneuploidy. Birth Defects: Original Article Series New York: Wiley-Liss, for the March of Dimes Birth Defects Foundation, Evans JA, Hamerton JL, 1991 26 209 223
4. Oral and written language abilities of XXY boys: implications for anticipatory guidance. JM Graham Jr AS Bashir RE Stark A Silbert S Walzer, Pediatrics 1988 81 795 806 3368277
5. Klinefelter syndrome. CM Smyth WJ Bremner, Arch Intern Med 1998 158 1309 1314 10.1001/archinte.158.12.1309 9645824
6. The XXY (Klinefelter's) syndrome in childhood: detection and treatment. PD Caldwell DW Smith, J Pediatr 1972 80 250 258 10.1016/S0022-3476(72)80586-9 5008821
7. A method for longitudinal study of behavioral development in infants and children: the early development of XXY children. S Walzer PH Wolff D Bowen AR Silbert AS Bashir PS Gerald JB Richmond, J Child Psychol Psychiat 1978 19 213 229 681465
8. Summary of clinical findings in children and young adults with sex chromosome anomalies. A Robinson B Bender MG Linden, Children and Young Adults with Sex Chromosome Aneuploidy. Birth Defects: Original Article Series New York: Wiley-Liss, for the March of Dimes Birth Defect Foundation, Evans JA, Hamerton JL, 1991 26 225 228
9. Klinefelter's syndrome in the male infertility clinic. H Okada H Fujioka N Tatsumi M Kanzaki Y Okuda M Fujisawa M Hazama O Matsumoto K Gohji S Arakawa S Kamidono, Hum Reprod 1999 14 946 952 10.1093/humrep/14.4.946 10221225
10. Sex chromosome tetrasomy and pentasomy. MG Linden BG Bender A Robinson, Pediatrics 1995 96 672 682 7567329
11. Long-term outcome in children of sex chromosome abnormalities. S Ratcliffe, Arch Dis Child 1999 80 192 195 10325742
12. Growth and body proportions in 53 boys and men with Klinefelter's syndrome. D Schibler CG Brook HP Kind M Zachmann A Prader, Helv Paediat Acta 1974 29 325 333 4372201
13. 47,XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter's syndrome. R Ron-El D Strassburger S Gelman-Kohan S Friedler A Raziel Z Appelman, Hum Reprod 2000 15 1804 1806 10.1093/humrep/15.8. 1804 10920107
14. Possible fertility in Klinefelter's syndrome. H Kaplan M Aspillaga TF Shelley LI Gardner, Lancet 1963 1 506 10.1016/S0140-6736(63)92413-9
15. Success of testicular sperm injection and intracytoplasmic sperm injection in men with Klinefelter syndrome. JD Schiff GD Palermo LL Veeck M Goldstein Z Rosenwaks PN Schlegel, J Clin Endocrinol Metab 2005 90 6263 6267 10.1210/jc.2004-2322 16131585
16. Intelligence and achievement in children with extra X aneuploidy: a longitudinal perspective. J Rovet C Netley J Bailey M Keenan D Stewart, Am J Med Genet 1995 60 356 363 10.1002/ajmg.1320600503 8546146
17. Psychosocial adaptation of 39 adolescents with sex chromosome abnormalities. BG Bender RJ Harmon MG Linden, Pediatrics 1995 96 302 308 7630689
18. The personality and psycho-sexual development of boys with 47,XXY chromosome constitution. J Bancroft D Axworthy S Ratcliffe, J Child Psychol Psychiatry 1982 23 169 180 7068790
19. Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study. AJ Swerdlow MJ Schoemaker CD Higgins AF Wright PA Jacobs UK Clinical Cytogenetics Group, J Natl Cancer Inst 2005 97 1204 1210 16106025
20. Endocrine features of Klinefelter's syndrome. WA Hsueh TH Hsu DD Federman, Medicine 1978 57 447 461 355776
21. Venous thromboembolic disease in Klinefelter's syndrome. WA Campbell WH Price, Clin Genet 1981 19 275 280 7273469
22. Osteoporosis and Klinefelter's syndrome. M Horowitz JM Wishart PD O'Loughlin HA Morris AG Need BE Nordin, Clin Endocrinol 1992 36 113 118
23. Follow-up of 30 Klinefelter males treated with testosterone. J Nielsen B Pelsen K Sorensen, Clin Genet 1988 33 262 269 3359683
24. The effect of testosterone replacement treatment on immunological features of patients with Klinefelter's syndrome. IH Kocar Z Yesilova M Ozata M Turan A Sengul I Ozdemir, Clin Exp Immunol 2000 121 448 452 10.1046/j.1365-2249. 2000.01329.x 10973715
25. Klinefelter syndrome and its variants: an update and review for the primary pediatrician. J Visootsak M Aylstock JM Graham, Clin Pediatr 2001 40 639 651
26. Adaptive and Maladaptive Behavior of Males with Sex Chromosome Aneuploidy. J Visootsak B Rosner E Dykens N Tartaglia JM Graham Jr, J Investig Med 2006 54 S280
27. Behavioral phenotypes of males with sex chromosomal aneuploidy. N Tartaglia A Reynolds J Visootsak S Gronly R Hansen R Hagerman, J Dev Behav Pediatr 2005 26 464 465 10.1097/00004703-200512000-00027
28. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. MA Ferguson-Smith, Lancet 1966 2 475 10.1016/S0140-6736(66)92778-4 4161595
29. 46,XX male syndrome: a case report. F Yencilek C Baykal, Clin Exp Obst Gyn 2005 32 263 264