Skip to main content
SpringerLink
Log in

The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

We have collected from the literature adult nonmosaic women with the following aberrant X chromosomes: Xp- (52), Xq- (67), idic(Xp-)(10), idic(Xq-)(9), and interstitial deletions (12). Lack of Xp, and especially Xcen-Xp11 (b region), may cause full-blown Turner syndrome. However, individual Turner symptoms, including gonadal dysgenesis, otherwise seem to be randomly distributed with respect to the different Xp and Xq deletions, although breakpoints distal to Xq25 do not give rise to any phenotypic anomalies except in a few cases of secondary amenorrhea or premature menopause. Of the carriers of an Xp- or Xq- chromosome, 65% and 93%, respectively, suffer from ovarian dysgenesis, whereas all idic(Xp-) and idic(Xq-) chromosomes cause primary or secondary amenorrhea. Xq deletions do not induce specific symptoms different from those caused by Xp deletions. Lack of the tip of Xp has led in 46/52 cases to short stature, but 43% of the Xq- carriers are also short. To explain these observations, we propose the following hypothesis. Since deletions of truly inactivated regions do not seem to cause any symptoms, we assume that the b region (Xcen-p11) always stays active in a normal inactive X, but is inactivated in deleted X chromosomes, especially in Xq- chromosomes. In some cases, inactivation may spread to the tip of Xp; this would explain the apparently variable behavior of the Xg and STS genes, and the short stature of some Xq- carriers. Full chromosome pairing seems to be a prerequisite for the viability of oocytes and thus for gonadal development. Deleted X chromosomes necessarily leave a portion of the normal X unpaired and isodicentrics probably interfere with pairing, resulting in atresia of oocytes. The role played by the “critical region” (Xq13–q24) in ovarian development is still unclear.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. 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

    Google Scholar 

  2. Couturier J, Dutrillaux B (1983) Replication studies and demonstration of position effect in rearrangements involving the human X chromosome. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part A: Basic mechanisms of X chromosome behavior. Liss, New York, pp 375–403

    Google Scholar 

  3. Curry CJR, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1010–1015

    Google Scholar 

  4. Daly RF, Patau K, Therman E, Sarto GE (1977) Structure and Barr body formation of an Xp+ chromosome with two inactivation centers. Am J Hum Genet 29:83–93

    Google Scholar 

  5. Fryns JP, Van den Berghe H (1983) Y-X translocations in man. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part B: Chromosome anomalies and their clinical manifestations. Liss, New York, pp 245–251

    Google Scholar 

  6. Herva R, Kaluzewski B, Chapelle A de la (1979) Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. Am J Med Genet 3:43–58

    Google Scholar 

  7. Immken L, Mohandas T, Sparkes RS, Shapiro LJ (1984) The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed. Am J Hum Genet 36:979–986

    Google Scholar 

  8. Kaslow DC, Migeon BR (1987) DNA methylation stabilizes X chromosome inactivation in eutherians but not in marsupials: evidence for multistep maintenance of mammalian X dosage compensation. Proc Natl Acad Sci USA 84:6210–6214

    Google Scholar 

  9. Mattei MG, Mattei JF, Vidal I, Giraud F (1981) Structural anomalies of the X chromosome and inactivation center. Hum Genet 56:401–408

    Google Scholar 

  10. Mattei MG, Mattei JF, Giraud F (1983) Some aspects of the inactivation centers on the X chromosome. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part A: Basic mechanisms of X chromosome behavior. Liss, New York, pp 327–339

    Google Scholar 

  11. Migeon BR, Shapiro LJ, Norum RA, Mohandas T, Axelman J, Dabora RL (1982a) Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature 299:838–840

    Google Scholar 

  12. Migeon BR, Wolf SF, Mareni C, Axelman J (1982b) Derepression with decreased expression of the G6PD locus on the inactive X chromosome in normal human cells. Cell 29:595–600

    Google Scholar 

  13. Migeon BR, Beggs AH, Driscoll DJ (1989) Maintenance of X chromosome inactivation: effect of timing, DNA methylation, tissue factors and chromatin loop organization. In: Josso N (ed) Development and function of the reproductive organs. Ares Serono Symposium 8, pp 49–56

  14. Otto PG, Therman E (1982) Spontaneous cell fusion and PCC formation in Bloom's syndrome. Chromosoma 85:143–148

    Google Scholar 

  15. Polani PE (1982) Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor. Hum Genet 60:207–211

    Google Scholar 

  16. Polani PE, Angell R, Giannelli F, Chapelle A de la, Race RR, Sanger R (1970) Evidence that the Xg locus is inactivated in structurally abnormal X chromosomes. Nature 227:613–616

    Google Scholar 

  17. Reddy KS, Savage JRK, Papworth DG (1988) Replication kinetics of X chromosomes in fibroblasts and lymphocytes. Hum Genet 79:44–48

    Google Scholar 

  18. Ropers H-H, Migl B, Zimmer J, Fraccaro M, Maraschio PP, Westerveld A (1981) Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations. Hum Genet 57:354–356

    Google Scholar 

  19. Sarto GE, Therman E (1980) Replication and inactivation of a dicentric X formed by telomeric fusion. Am J Obstet Gynecol 136:904–911

    Google Scholar 

  20. Sarto GE, Therman E, Patau K (1973) X inactivation in man: a woman with t(Xq-; 12q+). Am J Hum Genet 25:262–270

    Google Scholar 

  21. Sarto GE, Therman E, Patau K (1974) Increased Q fluorescence of an inactive Xq- chromosome in man. Clin Genet 6:289–293

    Google Scholar 

  22. Sarto GE, Kuhn EM, Therman E (1987) Segregation after mitotic crossing-over in isodicentric X chromosomes. Cytogenet Cell Genet 45:191–195

    Google Scholar 

  23. Schempp W, Meer B (1983) Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum Genet 63:171–174

    Google Scholar 

  24. Shapiro LJ, Mohandas T (1983) Noninactivation of X-chromosome loci in man. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part A: Basic mechanisms of X chromosome behavior. Liss, New York, pp 299–314

    Google Scholar 

  25. 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

    Google Scholar 

  26. Speed RM (1988) The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet 78:260–266

    Google Scholar 

  27. Teyssier J-R, Bajolle F, Caron J (1981) Complete deletion of long arm of X chromosome in a woman without Turner syndrome. Lancet II:1158–1159

    Google Scholar 

  28. Therman E (1983) Mechanisms through which abnormal X-chromosome constitutions affect the phenotype. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part B: Chromosome anomalies and their clinical manifestations. Liss, New York, pp 159–173

    Google Scholar 

  29. Therman E, Patau K (1974) Abnormal X chromosomes in man: rigin, behavior and effects. Humangenetik 25:1–16

    Google Scholar 

  30. Therman E, Sarto GE (1977) Premeiotic and early meiotic stages in the pollen mother cell of Eremurus and in human embryonic oocytes. Hum Genet 35:137–151

    Google Scholar 

  31. Therman E, Sarto GE (1983) Inactivation center on the human X chromosome. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part A: Basic mechanisms of X chromosome behavior. Liss, New York, pp 315–325

    Google Scholar 

  32. Therman E, Sarto GE, Patau K (1974) Center for Barr body condensation on the proximal part of the human Xq: a hypothesis. Chromosoma 44:361–366

    Google Scholar 

  33. Therman E, Sarto GE, Distèche C, Denniston C (1976) A possible active segment on the inactive human X chromosome. Chromosoma 59:137–145

    Google Scholar 

  34. Therman E, Sarto GE, Palmer CG, Kallio H, Denniston C (1979) Position of the human X inactivation center on Xq. Hum Genet 50:59–64

    Google Scholar 

  35. Therman E, Denniston C, Sarto GE, Ulber M (1980) X chromosome constitution and the human female phenotype. Hum Genet 54:133–143

    Google Scholar 

  36. Wahlström J (1983) Translocations between the X and the Y chromosomes in the human: their dynamics and effects. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part B: Chromosome anomalies and their clinical manifestations. Liss, New York, pp 253–260

    Google Scholar 

  37. Wilson MG, Modebe O, Towner JW, Frasier SD, Lin MS (1983) Ullrich-Turner syndrome associated with interstitial deletion of Xp11. 4→p22. 31. Am J Med Genet 14:567–576

    Google Scholar 

Appendix

  1. Aarskog D (1967) Chromosomal abnormalities and short stature in gonadal dysgenesis. Acta Paediatr Scand [Suppl] 177:69–72

    Google Scholar 

  2. Allerdice PW, Eales B (1981) Fertility in a patient with 46,X,del(X) (q21–q24). Am J Hum Genet 33:69A

    Google Scholar 

  3. Anuman-Rajadhon Y, Unakul W (1983) Secondary amenorrhea with deletion of the short arm of the X chromosome (46,XXp-): a case report. J Med Assoc Thai 66:122–124

    Google Scholar 

  4. Atkins L, Santesson B, Voss H (1965) Partial deletion of an X chromosome. Ann Hum Genet 29:89–95

    Google Scholar 

  5. Bachman R, Cruz FF de la, Al-Aish M, Santell F (1971) Short arm deletion of an X chromosome in a 19-year-old girl. Am J Ment Defic 75:435–441

    Google Scholar 

  6. Barakat BY, Ances IG, Fajer AB (1979) X short arm deletion in a female subject with spontaneous sexual development. Am J Obstet Gynecol 133:460–461

    Google Scholar 

  7. Barnabei VM, Wilson TA, Johanson AJ, Wyandt HE, Kelly T (1983) Isodicentric X chromosome in a girl with gonadal dysgenesis. South Med J 76:249–250

    Google Scholar 

  8. Bartsch-Sandhoff M, Terinde R, Wiegelmann W, Scholz W (1976) Karyotyp-Phenotyp-Korrelation bei einem 46,X del(X)(p22)-Befund. Hum Genet 31:263–270

    Google Scholar 

  9. Baué G, Gilgenkrantz S (1976) Le syndrome de Turner atypique. A propos d'un cas de délétion d'un bras long de l'X. Gynécologie 27:19–23

    Google Scholar 

  10. Baughman FA Jr, Vander Kolk KJ, Mann JD, Valdmanis A (1968) Two cases of primary amenorrhea with deletion of the long arm of the X chromosome (46,XXq-). Am J Obstet Gynecol 102:1065–1069

    Google Scholar 

  11. Bick DP, Schorderet DF, McGill JR, Bux RC, Moore CM (1988) Ichthyosis, Kallmann syndrome and chondrodysplasia punctata in a male infant with an Xp chromosome deletion: relationship to warfarin embryopathy. Am J Hum Genet 43 [Suppl]:A39

    Google Scholar 

  12. Bjøro K (1965) Primary amenorrhoea. Acta Obstet Gynecol Scand 44 [Suppl 4]:1–126

    Google Scholar 

  13. Bocian M, Krmpotic E, Szego K, Rosenthal IM (1971) Somatic stigmata of Turner's syndrome in a patient with 46,XXq-. J Med Genet 8:358–363

    Google Scholar 

  14. Boczkowski K, Mikkelsen M (1973) Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes. J Med Genet 10:350–355

    Google Scholar 

  15. Boczkowski K, Mikkelsen M, Poulsen H (1978) Turner syndrome with rare karyotypes. Clin Genet 13:409–414

    Google Scholar 

  16. Bovicelli L (1968) Disgenesia gonadica dovuta a delezione parziale di un cromosoma X. Rev Ital Ginecol 52:83–91

    Google Scholar 

  17. Branković S, Laća Z, Dramušić V, Ivanović M, Morić-Petrović S (1979) A case of long arm deletion of the X chromosome in a patient with secondary amenorrhea. Hum Genet 48:139–142

    Google Scholar 

  18. Conté W, Stone J, Yen PH, Mohandas TK, Shapiro LJ (1988) Normal stature and fertility in a female with an extensive Xpter deletion. Am J Hum Genet 43 [Suppl]:A105

    Google Scholar 

  19. Curry CJR, Magenis RE, Brown M, Lanman JT Jr, Tsai J, O'Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ (1984) Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 311:1010–1015

    Google Scholar 

  20. Daniel A, Saville T, Southall DB (1979) Further dicentric X isochromosomes and deletions, and a new structure i(X) (pter→q210→pter). J Med Genet 16:278–284

    Google Scholar 

  21. Davis JR, Heine MW, Lightner ES, Giles HR, Graap RF (1976) X-short arm deletion gonadal dysgenesis in two siblings due to unique translocation (Xp-;16p+). Clin Genet 10:202–207

    Google Scholar 

  22. Chapelle A de la, Schröder J, Haahtela T, Aro P (1975) Deletion mapping of the human X chromosome. Hereditas 80:113–120

    Google Scholar 

  23. Chapelle A de la, Schröder J, Pernu M (1972) Isochromosome for the short arm of X, a human 46,XXpi syndrome. Ann Hum Genet 36:79–87 and Chapelle A de la, Schröder J (1975) Reappraisal of a 46,X,i(Xp) karyotype as 46,X,del(Xq). Hereditas 80:137–140

    Google Scholar 

  24. Dewald G, Spurbeck JL, Gordon H (1978) Replication patterns of three isodicentric X chromosomes and an X isochromosome in human lymphocytes. Am J Med Genet 1:445–460

    Google Scholar 

  25. Dewhurst J (1981) Gonadal dysgenesis and X chromosome deletion. Br J Obstet Gynaecol 88:944–949

    Google Scholar 

  26. Distèche C, Hagemeijer A, Frederic J, Progneaux D (1972) An abnormal large human chromosome identified as an end to end fusion of two X's by combined results of the new banding techniques and microdensitometry. Clin Genet 3:388–395

    Google Scholar 

  27. Duca D, Pana I, Ciovirnache M, Simionesu L, Ispas I, Maximilian C (1981) A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome-autosomal or X-linked male-lethal. Am J Med Genet 8:173–180

    Google Scholar 

  28. Ferraro M, Capoa A de, Mostacci C, Pilliccia F, Zulli P, Baldini MA, Nisio Q di (1980) Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter→p221::p223→qter) karyotype: review and phenotype/karyotype correlations. J Med Genet 17:457–463

    Google Scholar 

  29. Fitch N, Saint Victor J de, Richer C-L, Pinsky L, Sitahal S (1982) Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review. Am J Obstet Gynecol 142:968–972 and Schwartz C, Fitch N, Phelan MC, Richer C-L, Stevenson R (1987) Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. Hum Genet 76:54–57

    Google Scholar 

  30. Fitzgerald PH, Donald RA, McCormick P (1984) Reduced fertility in women with X chromosome abnormality. Clin Genet 25:301–309

    Google Scholar 

  31. Forabosco A, Dallapiccola B (1974) X long-arm deletion with features of Turner's syndrome. Lancet II:403–404

    Google Scholar 

  32. Fraccaro M, Lindsten J (1964) The nature, origin, and genetic implications of structural abnormalities of the sex chromosomes in man. In: Harris RJC (ed) Cytogenetics of cells in culture. Academic Press, New York, pp 97–110

    Google Scholar 

  33. 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

    Google Scholar 

  34. Fraisse J, Laurent C, Collard N, Biemont M-C, Dutrillaux B (1975) Un deuxième exemple de fusion télomérique de deux chromosomes X. Ann Génét (Paris) 18:243–245

    Google Scholar 

  35. Francke U (1984) Random X inactivation resulting in mosaic nullisomy of region Xp21.1→p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet 38:298–307

    Google Scholar 

  36. Fryns JP (personal communication)

  37. Fryns JP, Kleczkowska A, Petit P, Van den Berghe H (1982) Fertility in patients with X chromosome deletions. Clin Genet 22:76–79

    Google Scholar 

  38. Fryns JP, Kleczkowska A, Van den Berghe H (1983) The X chromosome and sexual development: clinical aspects. In: Sandberg AA (ed) Cytogenetics of the mammalian X chromosome, part B: Chromosome anomalies and their clinical manifestations. Liss, New York, pp 115–126 and Fryns JP (personal communication concerning breakpoint)

    Google Scholar 

  39. Fryns JP, Petit P, Kleczkowska A, Van den Berghe H (1983) Replication and inactivation of an isodicentric X: presence of an inactive centromere influences the replication patterns. Clin Genet 24:180–183

    Google Scholar 

  40. Fryns JP, Petit P, Van den Berghe H (1981) The various phenotypes in Xp deletion. Observations in eleven patients. Hum Genet 57:385–387

    Google Scholar 

  41. Giraud F, Hartung M, Mattei J-F, Bachelet Y, Mattei M-G (1974) Deletion partielle du bras court d'un chromosome X. Arch Fr Pédiatr 31:717–724

    Google Scholar 

  42. Goldberg MB, Scully AL, Solomon IL, Steinbach HL (1968) Gonadal dysgenesis in phenotypic female subjects. Am J Med 45:529–543

    Google Scholar 

  43. Goldman B, Polani PE, Daker MG, Angell RR (1982) Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet 21:36–52

    Google Scholar 

  44. Golob E, Fischer P, Kunze-Mühl E (1967) Morphologisch abnorme X-Chromosomen. Dtsch Med Wochenschr 2:71–74

    Google Scholar 

  45. Golob E, II. Universitäts-Frauenklinik, Vienna (personal communication)

  46. Gordon H, Dewald G, Dahl R, Souchek R (1979) Videodensitometric analysis of normal and abnormal X chromosomes by computer. In: Vallet HL, Porter IH (eds) Genetic mechanisms of sexual development. Academic Press, New York, pp 331–364

    Google Scholar 

  47. Grouchy J de, Lamy M, Yaneva H, Salomon Y, Netter A (1961) Further abnormalities of the X chromosome in primary amenorrhoea or in severe oligomenorrhoea. Lancet 11:777–778

    Google Scholar 

  48. Grumbach MM, Van Wyk JJ (1974) Disorders of sex differentiation. In: Williams RH (ed) Textbook of endocrinology, 5th edn. Saunders, Philadelphia, pp 423–501

    Google Scholar 

  49. Hecht F, Jones DL, Delay M, Klevit H (1970) Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome. J Med Genet 7:1–4

    Google Scholar 

  50. Hellkuhl B, Gebauer J, Grzeschik K-H (1980) Human X chromosomes: Barr body formation, late replication, inactivity. International chromosome conference, Oxford (Conference report) and Gebauer J (personal communication)

  51. Herva R, Kaluzewski B, Chapelle A de la (1979) Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. Am J Med Genet 3:43–58

    Google Scholar 

  52. Ishitobi K, Harada R, Ninomiya T, Santo Y, Harada Y (1976) X/X translocation in a girl with gonadal dysgenesis. Yonago Acta Med 20:19–27

    Google Scholar 

  53. Ishitobi K, Harada Y (1979) A case of 46,XXq- with Turner's stigmata. Proc Jpn Acad 55B:10–14

    Google Scholar 

  54. Ishitobi K, Nakada N, Watanabe A, Harada Y (1982) Notes on clinical features of a 46, XXp-patient. Proc Jpn Acad 58B:25–28

    Google Scholar 

  55. Kaiser P, Harprecht W, Steuernagel P, Daume E (1984) Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature. Clin Genet 26:433–439

    Google Scholar 

  56. Kaiser P, Zabel B, Hansen S, Daume E (1976) Short arm deletion of an X chromosome, 46,XXp-. Hum Genet 32:89–100

    Google Scholar 

  57. Kalousek D, Schiffrin A, Berguer A-M, 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

    Google Scholar 

  58. Käosaar M, Mikelsaar A-V (1980) Partial short arm deletion of the X chromosome 46,X,del(X)(qter→p21:. Hum Genet 53:275–277

    Google Scholar 

  59. Keogh EJ, Kretser DM de, Fitzgerald MG (1973) Isochromosome for the short arm of X with primary amenorrhoea and a pituitary tumour. Aust NZ J Med 3:617–619

    Google Scholar 

  60. Kim HJ, Hsu LYF, Hirschhorn K (1974) Familial X/X translocation: t(X;X) (p22;q13). Cytogenet Cell Genet 13:454–464

    Google Scholar 

  61. Kirillova EA, Zolotuchina TV, Mikelsaar A-V N, Seleznev YV, Rozovsky IS (1972) Isochromosome Xpi. Diagnosis and phenotype characteristics. Genetika 8:114–122

    Google Scholar 

  62. 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 Eng J Med 317:125–131

    Google Scholar 

  63. Kristensen H, Friedrich U, Larsen G, Therkelsen AJ (1975) Structural X-chromosome abnormality in a female with gonadal dysgenesis. Humangenetik 26:133–138

    Google Scholar 

  64. László J, Gaál M (1977) Analysis of cases with isochromosomes for the long arm of the X chromosome. Excerpta Med Int Congr Ser 428:187–199

    Google Scholar 

  65. Latt SA, Willard HF, Gerald PS (1976) BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma 57:135–153

    Google Scholar 

  66. Leal-Garza C, Forsbach-Sanchez G, Gonzalez-Cavazos L, Ortiz-Jalomo R, Garza-Chapa R (1986) X∶X translocation in a patient with gonadal dysgenesis. Arch Invest Med (Mex) 17:337–346

    Google Scholar 

  67. Leichtman DA, Schmickel RD, Gelehrter TD, Judd WJ, Woodbury MC, Meilinger KL (1978) Familial Turner syndrome. Ann Intern Med 89:473–476

    Google Scholar 

  68. Lejeune J, Doumic JM, Berger R, Rethoré M-O (1966) Sur un cas de dysgénésie ovarienne XXdc. Ann Génét (Paris) 9:132–133

    Google Scholar 

  69. Lippe BM, Crandall BF (1973) Turner syndrome with partial deletion of the X chromosome long arm. Am J Dis Child 126:222–224

    Google Scholar 

  70. Mijin K, Stolević E, Adzić S, Laća Z, Marković S (1982) X long arm deletion with oligomenorrhoea. J Med Genet 19:305–306

    Google Scholar 

  71. Naguib KK, Sundareshan TS, Bahar AM, Al-Awadi SA, Jeryan LA, Hamdan MR (1988) Fertility with deletion Xq25:report of three cases; possible exceptions for critical region hypothesis. Fertil Steril 49:917–919

    Google Scholar 

  72. Newton MS, Jacobs PA, Price WH, Woodcock G, Fraser IA (1972) A chromosome survey of a hospital for the mentally subnormal, part 1: Sex chromosome abnormalities. Clin Genet 3:215–225

    Google Scholar 

  73. Oishi H, Totani R, Amoh H, Sonta S (1973) Clinical features of a patient with 46,XXq- and genetic inactivation of the X chromosome. Jpn J Hum Genet 19:91–92

    Google Scholar 

  74. Palmer CG, Reichmann A (1976) Chromosomal and clinical findings in 110 females with Turner syndrome. Hum Genet 35:35–49

    Google Scholar 

  75. Payne DG, Fayez JA (1982) Primary amenorrhea and short arm deletion of the X chromosome, 46,X,del(Xp). Report of two cases. NC Med J 43:287–288

    Google Scholar 

  76. Petrinelli P, Antonelli A, Gabellini P, Gigliani F, Marcucci L, Nicoletti B (1978) Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X) (p22) identified by BUdR treatment. Hum Genet 45:351–354

    Google Scholar 

  77. Robertson J, Faed MJW, Lamont MA, Crowder AM (1982) Isodicentric X chromosome in a moderately tall patient with gonadal dysgenesis: lack of effect of functional centromere on inactivation pattern. J Med Genet 19:463–465

    Google Scholar 

  78. Ruthner U, Maschik S, Friedrich F, Breitenecker G (1979) Partial long arm deletion of one X chromosome in a patient with secondary amenorrhea. Hum Genet 48:135–137

    Google Scholar 

  79. Salesses A, Boissonnas A, Rouffet A, Baverel F, Caquet R, Bugard P, Laroche P (1981) Délétion du petit bras d'un chromosome X et syndrome de Turner. Un nouveau cas: 46,X,del (X)(p11). Ann Endocrinol (Paris) 42:147–151

    Google Scholar 

  80. Santi F, D'Alberton A, Chierichetti G (1969) Disgenesia gonadica da delezione delle braccia lunghe di un cromosoma X. Ann Ostet Ginecol 10:685–693

    Google Scholar 

  81. Sarto GE, Therman E (1980) Replication and inactivation of a dicentric X formed by telomeric fusion. Am J Obstet Gynecol 136:904–911

    Google Scholar 

  82. Sarto GE, Therman E, Patau K (1974) Increased Q fluorescence of an inactive Xq- chromosome in man. Clin Genet 6:289–293

    Google Scholar 

  83. Schwanitz G, Tietze HU, Pfeiffer RA, Grosse KP, Becker H, Egger H (1977) Duplication deficiency of an X-chromosome with and without 45, X mosaicism in three girls. Acta Genet Med Gemellol (Roma) 26:277–281

    Google Scholar 

  84. Seki T, Fujimoto S, Abe S, Sasaki M, Kawaguchi I, Kikukawa H, Kikuchi Y, Ichinoe K (1981) Long arm deletion of the X chromosome, 46,X,del(X)(q21), associated with gonadoblastoma. Jpn J Hum Genet 26:307–312

    Google Scholar 

  85. Simpson JL, Lebeau MM (1981) Gonadal and statural determinants on the X chromosome and their relationship to in vitro studies showing prolonged cell cycles in 45,X;46,X,del (X)(p11);46,X,del(X)(q13); and 46,X,del(X)(q22) fibroblasts. Am J Obstet Gynecol 141:930–930 and Gadow, Matayoshi, Slavutsky, Scarpati (976) VII Congress of Genetics (abstract)

    Google Scholar 

  86. Skibsted L, Westh H, Niebuhr E (1984) X long-arm deletions. A review of non-mosaic cases studied with banding techniques. Hum Genet 67:1–5

    Google Scholar 

  87. Slater R, Ntuyabaliwe WK (1974) Turner's syndrome and long-arm deletions of the X chromosome. Lancet II:57–58

    Google Scholar 

  88. Smith A, Donnelly PE, Elliot G, Dulk G (1979) An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis. Ann Génét (Paris) 22:143–147

    Google Scholar 

  89. Srivastava PK, Fristoe F Jr, McDavid RE, Townsend JF (1979) A teenager with 46,X,del(X)(q21). South Med J 72:1461–1463

    Google Scholar 

  90. Stoll C, Muller P, Dellenbach P (1973) X deletion and primary amenorrhoea. Lancet I:436 and Stoll C (personal communication)

    Google Scholar 

  91. Taysi K (1983) Del(X)(q26) in a phenotypically normal woman and her daughter who also has trisomy 21. Am J Med Genet 14:367–372

    Google Scholar 

  92. Tegenkamp TR, Gruber J, Fisher A (1978) An apparent translocation on two X chromosomes attached long arm to long arm, with two regions of centromeric heterochromatin. Am J Hum Genet 30:69A

    Google Scholar 

  93. Therman E, Sarto GE, DeMars RI (1981) The origin of telocentric chromosomes in man: a girl with tel(Xq). Hum Genet 57:104–107

    Google Scholar 

  94. Therman E, Sarto GE, Palmer CG, Kallio H, Denniston C (1979) Position of the human X inactivation center on Xq. Hum Genet 50:59–64

    Google Scholar 

  95. Therman E, Sarto GE, Patau K (1974) Apparently isodicentric but functionally monocentric X chromosome in man. Am J Hum Genet 26:83–92

    Google Scholar 

  96. Trunca C, Therman E, Rosenwaks Z (1984) The phenotypic effects of small, distal Xq deletions. Hum Genet 68:87–89

    Google Scholar 

  97. Van den Berghe H, Fryns JP, Devos F (1973) 46,XXip karyo-type in a woman with normal stature and gonadal dysgenesis without other congenital anomalies. Humangenetik 20:163–166

    Google Scholar 

  98. Weber FM, Muller H, Sparkes RS (1970) Clinical and cytogenetic variations of gonadal dysgenesis in 3 patients. Am J Obstet Gynecol 107:1092–1098

    Google Scholar 

  99. Weed JC (1972) Unusual ovarian development. In: Dougherty CM, Spencer R (eds) Sex anomalies. Harper & Row, New York, pp 195–204

    Google Scholar 

  100. Wilson MG, Modebe O, Towner JW, Frasier SD, Lin MS (1983) Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4→p22.31. Am J Med Genet 14:567–576

    Google Scholar 

  101. Wolf U, Fraccaro M, Mayerová A, Hecht T, Maraschio P, Hameister H (1980) A gene controlling H-Y antigen on the X chromosome. Tentative assignment by deletion mapping to Xp223. Hum Genet 54:149–154

    Google Scholar 

  102. Wyss D, DeLozier CD, Daniell J, Engel E (1982) Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases. Clin Genet 21:145–149

    Google Scholar 

  103. Yu CW, Priest JH, Byrd JR (1982) DNA replication sequence in a dicentric (functionally monocentric) X chromosome formed by the joining of two X chromosomes at region p22. Am J Med Genet 11:305–317

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medical Genetics, University of Wisconsin, 53706, Madison, WI, USA

    Eeva Therman & Barbara Susman

Authors
  1. Eeva Therman
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Barbara Susman
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Therman, E., Susman, B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85, 175–183 (1990). https://doi.org/10.1007/BF00193192

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00193192

Keywords

Search

Navigation