Home LiteratureArticle Details
PMID: 6892019 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype.

Human genetics ·Vol. 62 ·No. 3 ·1982-00-00 ·Pages 271-6

Magenis RE, Webb MJ, McKean RS, Tomar D, Allen LJ, Kammer H, Van Dyke DL, Lovrien E

Abstract

Analysis of G-banded prometaphase chromosomes from three XX males revealed extra bands on the distal end of one X short arm. These bands were similar both in size and staining properties to the distal Y short arm of their fathers (in the two cases examined) and also to other chromosomally normal males. The extra material on the abnormal X chromosomes was not C- or G-11 positive in the two cases examined, suggesting that the proximal Y long arm was not present. Previous karyotype-phenotype correlations with structurally altered Y chromosomes provided evidence for localization of male determinants on the Y short arm. The present findings in XX males provide support for more precise localization, to bands p11.2 leads to pter of Y short arm.

MeSH Terms
Adult Chromosome Banding Female Humans Infant, Newborn Karyotyping Male Phenotype Sex Chromosome Aberrations/genetics Sex Chromosomes Translocation, Genetic X Chromosome Y Chromosome
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Magenis R E
Webb M J
McKean R S
Tomar D
Allen L J
Kammer H
Van Dyke D L
Lovrien E
References (52)
52 references, click to expand
  1. Letter: Possible evidence for Xp plus in and XX Male.
    Lancet. 1974 Jun 15;1(7868):1223 PMID: 4134689
  2. Turner's syndrome and 46,X,i(Yq) karyotype.
    J Med Genet. 1974 Dec;11(4):403-6 PMID: 4443992
  3. Mechanisms of giemsa banding of chromosomes. I. Giemsa-11 banding with azure and eosin.
    Exp Cell Res. 1976 Oct 1;102(1):85-94 PMID: 61884
  4. The etiology of maleness in XX men.
    Hum Genet. 1981;58(1):105-16 PMID: 6945286
  5. Sex specific difference in placental steroid sulphatase activity.
    Lancet. 1981 Aug 1;2(8240):255-6 PMID: 6114308
  6. The role of Yp in sex determination: new evidence from X/Y translocations.
    Am J Med Genet. 1982 Jun;12(2):175-84 PMID: 6954848
  7. Simultaneous fluorescent staining of R bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes.
    Cytogenet Cell Genet. 1980;27(2-3):190-3 PMID: 6156801
  8. Y to X translocation in man.
    Hum Genet. 1977 Apr 15;36(2):129-41 PMID: 858625
  9. Y-to-X chromosome translocation observed in two generations.
    Hum Genet. 1980;55(1):39-42 PMID: 7450755
  10. X-linked steroid sulfatase: evidence for different gene-dosage in males and females.
    Hum Genet. 1980;54(2):197-9 PMID: 6930360
  11. Regional assignment of the gene locus for steroid sulfatase.
    Hum Genet. 1980;54(2):201-4 PMID: 6985463
  12. Cytogenetic and clinical notes on a girl with a 46,X,i(Yq) karyotype, H-Y antigen-negative, and a gonadoblastoma.
    Birth Defects Orig Artic Ser. 1978;14(6C):97-107 PMID: 569516
  13. Incidence of chromosome aberrations among 11148 newborn children.
    Humangenetik. 1975 Oct 20;30(1):1-12 PMID: 1184003
  14. Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female.
    Am J Hum Genet. 1979 Jul;31(4):458-68 PMID: 573550
  15. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome.
    Lancet. 1966 Aug 27;2(7461):475-6 PMID: 4161595
  16. Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange.
    Hum Genet. 1979 May 23;49(1):11-31 PMID: 572812
  17. A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.
    Cytogenet Cell Genet. 1976;17(1):42-50 PMID: 949907
  18. Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during miosis in the human male.
    Nature. 1970 Jun 6;226(5249):959-61 PMID: 4192296
  19. Steroid sulphatase levels in XX males, including observations on two affected cousins.
    Hum Genet. 1981;59(1):87-8 PMID: 10819031
  20. A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome.
    J Med Genet. 1972 Mar;9(1):96-100 PMID: 5063516
  21. Cytological evidence for the association of the short arms of the X and Y chromosomes in the human male.
    Nature. 1971 Aug 20;232(5312):555-6 PMID: 4106137
  22. Structural abnormalities of the Y chromosome in man.
    Nature. 1966 Apr 23;210(5034):352-4 PMID: 5963227
  23. A new case of Y to X translocation in a female.
    Hum Genet. 1980;54(3):303-7 PMID: 6931098
  24. Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers.
    Hum Genet. 1982;60(1):85-90 PMID: 6176530
  25. Four new cases of Dicentric Y chromosomes.
    Hum Genet. 1977 May 10;36(3):249-60 PMID: 852871
  26. High resolution of human chromosomes.
    Science. 1976 Mar 26;191(4233):1268-70 PMID: 1257746
  27. Analytic review: nature and origin of males with XX sex chromosomes.
    Am J Hum Genet. 1972 Jan;24(1):71-105 PMID: 4622299
  28. Serologic detection of a y-linked gene in xx males and xx true hermaphrodites.
    N Engl J Med. 1976 Sep 30;295(14):750-4 PMID: 986548
  29. A synopsis of the human Y chromosome.
    Hum Genet. 1980;55(2):145-75 PMID: 7005073
  30. Identification of human chromosomes by DNA-binding fluorescent agents.
    Chromosoma. 1970;30(2):215-27 PMID: 4193398
  31. Isochromosome Y (46,X,i(Yq)) and female phenotype.
    Clin Genet. 1973;4(5):410-4 PMID: 4751309
  32. Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9.
    Nat New Biol. 1972 Jul 26;238(82):122-4 PMID: 4114702
  33. Sex reversal in the mouse (Mus musculus) is caused by a recurrent nonreciprocal crossover involving the x and an aberrant y chromosome.
    Cell. 1982 Feb;28(2):205-16 PMID: 7060127
  34. X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.
    J Med Genet. 1978 Dec;15(6):466-74 PMID: 745219
  35. Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.
    Proc Natl Acad Sci U S A. 1979 Nov;76(11):5779-83 PMID: 293682
  36. Isochromosome Yq in a woman with atypical Turner's syndrome.
    Hum Genet. 1977 Aug 31;38(1):49-55 PMID: 561748
  37. Steroid sulfatase activity in cultured fibroblasts of XX males.
    Cytogenet Cell Genet. 1981;30(3):168-73 PMID: 6945932
  38. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
    Hum Genet. 1980;54(2):205-6 PMID: 6930361
  39. A male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study.
    Humangenetik. 1968;6(2):131-41 PMID: 5704431
  40. Chromosome measurements on an XXp+ male.
    Hum Genet. 1976 May 19;32(2):141-2 PMID: 1270072
  41. H-Y antigen: behavior and function.
    Science. 1977 Mar 11;195(4282):956-60 PMID: 320662
  42. Localization of heterochromatin in human chromosomes.
    Cytogenetics. 1971;10(2):81-6 PMID: 4106483
  43. Human dicentric Y chromosomes. Case report and review of the literature.
    J Med Genet. 1973 Mar;10(1):74-9 PMID: 4697856
  44. STERILE MALE WITH THE CHROMOSOME CONSTITUTION 46 XX.
    Cytogenetics. 1964;3:207-18 PMID: 14227325
  45. Two XX males in one family and additional observations bearing on the etiology of XX males.
    Clin Genet. 1977 Feb;11(2):91-106 PMID: 837567
  46. XX SEX CHROMOSOMES IN A HUMAN MALE. FIRST CASE.
    Acta Med Scand. 1964;175:SUPPL 412:25-8 PMID: 14154995
  47. Nonfluorescent Y chromosomes. Cytologic evidence of origin.
    Hum Genet. 1982;60(2):133-8 PMID: 7076253
  48. A rapid banding technique for human chromosomes.
    Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917
  49. The identification of Y chromosome translocations following Distamycin A treatment.
    Clin Genet. 1981 May;19(5):335-42 PMID: 7197598
  50. Mechanisms of gonadal differentiation.
    Science. 1981 Mar 20;211(4488):1272-8 PMID: 7010601
  51. Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.
    J Med Genet. 1981 Jun;18(3):161-95 PMID: 7017147
  52. Sexual determination of XX men.
    J Genet Hum. 1978 Sep;26(3):287-8 PMID: 570214
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00333535
Published
1982-00-00
Pages
271-6
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Grants
NICHD NIH HHS · HD07997 · United States
External Links
PubMed source DOI: 10.1007/BF00333535 View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2