Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1

American Journal of Human Genetics

Volumn 63, Issue 6, 1998, Pages 1757-1766

  Zinn, Andrew R ^a   Tonk, Vijay S ^c   Chen, Zhong ^d,e   Flejter, Wendy L ^e,l   Gardner, H Allen ^f   Guerra, Rudy ^b   Kushner, Harvey ^g   Schwartz, Stuart ⁱ   Sybert, Virginia P ^j   Van Dyke, Daniel L ^k   Ross, Judith L ^h  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b SOUTHERN METHODIST UNIVERSITY   (United States)

^c TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^d GENZYME GENETICS   (United States)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f Oshawa General Hospital   (Canada)

^g UNIVERSITY OF TORONTO   (Canada)

^h THOMAS JEFFERSON UNIVERSITY   (United States)

ⁱ CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF WASHINGTON   (United States)

^k HENRY FORD HOSPITAL   (United States)

^l WAKE FOREST SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARDIOVASCULAR MALFORMATION; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCUS; GENE MAPPING; HUMAN; HYPERTENSION; KARYOTYPE; KIDNEY MALFORMATION; LYMPHEDEMA; MONOSOMY X; OVARY DISEASE; PARTIAL MONOSOMY; PRIORITY JOURNAL; SHORT STATURE; THYROID DISEASE; TURNER SYNDROME; WEBBED NECK;

EID: 0032471420     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302152     Document Type: Article

References (44)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239
2. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, et al. (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86:10001-10005
3. Belmont JW (1996) Genetic control of X inactivation and pro- cesses leading to X-inactivation skewing. Am J Hum Genet 58:1101-1108
4. Brook CG, Gasser T, Werder EA, Prader A, Vanderschueren-Lodewykx MA (1977) Height correlations between parents and mature offspring in normal subjects and in subjects with Turner's and Klinefelter's and other syndromes. Ann Hum Biol 4:17-22
5. Burgoyne PS, Baker TG (1985) Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. J Reprod Fertil 75:633-645
6. Epstein CJ (1988) Mechanisms leading to the phenotype of Turner syndrome. In: Rosenfeld RG, Grumbach MM (eds) Turner syndrome. Marcel Dekker, New York, pp 13-28
7. Epstein CJ, Korenberg JR, Annerén G, Antonarakis SE, Aymé S, Courchesne E, Epstein LB, et al. (1991) Protocols to establish genotype-phenotype correlations in Down syndrome. Am J Hum Genet 49:207-235
8. Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2:142-155
9. Fraccaro M, Maraschio P, Pasquali F, Scappaticci S (1977) Women heterozygous for deficiency of the (p21-pter) region of the X chromosome are fertile. Hum Genet 39:283-292
10. Fryns JP, Petit P, Van den Berghe H (1981) The various phenotypes in Xp deletion: observations in eleven patients. Hum Genet 57:385-387
11. Gilbert J (1995) Establishment of permanent cell lines by Epstein-Barr virus transformation. In: Dracopoli N, Haines J, Korf B, Moir D, Morton C, Seidman C, Seidman J, et al. (eds) Current protocols in human genetics. Vol 2. John Wiley, New York, pp A.3.H.1-A.3.H.5
12. Goldman B, Polani PE, Daker MG, Angell RR (1982) Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet 21:36-52
13. Hamill PW, Drizd TA, Johnson CL, Reed RB, Roche AF, Moore WM (1979) Physical growth: National Center for Health Statistics percentiles. Am J Clin Nutr 32:607-629
14. Jacobs PA, Betts PR, Cockwell AE, Crolla JA, Mackenzie MJ, Robinson DO, Youings SA (1990) A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome. Ann Hum Genet 54:209-223
15. Kalousek D, Schiffrin A, Berguer AM, Spier P, Guyda H, Colle E (1979) Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature. J Pediatr 94:891-894
16. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, et al. (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 91:4997-5001
17. Krauss CM, Turksoy RN, Atkins L, McLaughlin C, Brown LG, Page DC (1987) Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 317:125-131
18. Lahn BT, Page DC (1997) Functional coherence of the human Y chromosome. Science 278:675-680
19. Lander ES, Schork NJ (1994) Genetic dissection of complex traits. Science 265:2037-2048
20. Lippe B (1991) Turner syndrome. Endocrinol Metab Clin North Am 20:121-152
21. Luoh SW, Bain PA, Polakiewicz RD, Goodheart ML, Gardner H, Jaenisch R, Page DC (1997) Zfx mutation results in small animal size and reduced germ cell number in male and female mice. Development 124:2275-2284
22. Lyon MF (1961) Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372-373
23. Massa G, Vanderschueren-Lodeweyckx M, Fryns JP (1992) Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome. Eur J Pediatr 151:893-894
24. Mathur A, Stekol L, Schatz D, MacLaren NK, Scott ML, Lippe B (1991) The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet 48:682-686
25. Migeon BR (1998) Non-random X chromosome inactivation in mammalian cells. Cytogenet Cell Genet 80:142-148
26. Miyabara S, Nakayama M, Suzumori K, Yonemitsu N, Sugihara H (1997) Developmental analysis of cardiovascular system of 45,X fetuses with cystic hygroma. Am J Med Genet 68:135-141
27. Miyabara S, Sugihara H, Maehara N, Shouno H, Tasaki H, Yoshida K, Saito N, et al. (1989) Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis. Am J Med Genet 34:489-501
28. Nelson DL, Ballabio A, Cremers F, Monaco AP, Schlessinger D (1995) Report of the Sixth International Workshop on X Chromosome Mapping 1995. Cytogenet Cell Genet 71:308-336
29. Ogata T, Goodfellow P, Petit C, Aya M, Matsuo N (1992) Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. J Med Genet 29:455-459
30. Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95:607-629
31. Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P (1992) Chromosomal localisation of a pseudoautosomal growth gene(s). J Med Genet 29:624-628
32. Page DC, Mosher R, Simpson EM, Fisher EM, Mardon G, Pollack J, McGillivray B, et al. (1987) The sex-determining region of the human Y chromosome encodes a finger protein. Cell 51:1091-1104
33. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54-63
34. Rappold GA (1993) The pseudoautosomal regions of the human sex chromosomes. Hum Genet 92:315-324
35. Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen GJ, et al. (1993) A high resolution deletion map of human chromosome Xp22. Nat Genet 4:272-279
36. Simpson JL (1988) Localizing ovarian determinants through phenotypic-karyotypic deductions. In: Rosenfeld RG, Grumbach MM (eds) Turner syndrome. Marcel Dekker, New York, pp 65-77
37. Skuse DH, James RS, Bishop DV, Coppin B, Dalton P, Aamodt-Leeper G, Bacarese-Hamilton M, et al. (1997) Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705-708
38. Speed RM (1986) Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma 94:115-124
39. Sybert V (1995) The adult patient with Turner syndrome. In: Albertsson-Wikland K, Ranke M (eds) Turner syndrome in a life span perspective: research and clinical aspects. Elsevier, Amsterdam, pp 205-218
40. Tanner J, Goldstein H, Whitehouse R (1970) Standards for children's height at ages 2-9 years allowing for height of parents. Arch Dis Child 45:755-762
41. Temtamy SA, Ghali I, Salam MA, Hussein FH, Ezz EH, Salah N (1992) Karyotype/phenotype correlation in females with short stature. Clin Genet 41:147-151
42. Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF (1996) Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet 58:154-160
43. Zehetner G, Lehrach H (1994) The Reference Library System-sharing biological material and experimental data. Nature 367:489-491
44. Zinn AR, Page DC, Fisher EMC (1993) Turner syndrome - the case of the missing sex chromosome. Trends Genet 9:90-93