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PMID: 7017147 Published · ppublish English Journal Article Review

Localisation of male determining factors in man: a thorough review of structural anomalies of the Y chromosome.

Journal of medical genetics ·Vol. 18 ·No. 3 ·1981-06-00 ·Pages 161-95

Davis RM

Abstract

It is widely accepted that male determination in man depends on the presence of a factor or factors on the Y chromosome. These factors may be localised within the Y chromosome through the study of structural anomalies of the Y. A thorough review of seven different structural anomalies of the Y is presented: dicentric Y chromosomes, Y isochromosomes, ring Y chromosomes, Y; autosome, Y;X, and Y;Y translocations, and Y deletions. The evidence from these studies indicates that a gene or genes on the short arm or the Y near the centromere play a crucial role in the development of the testes. A few studies indicate that one or more factors on the long arm of the Y may also influence testicular development. If such a factor is present on the long arm, then it too must be very near the centromere. The theory that separate genes independently control the initial development and maturation of the tests (on the long and short arms of the Y, respectively) may be premature. Recently proposed arguments in its favour are examined. Some evidence also indicates the presence of a fertility factor on the non-fluorescent segment of the long arm. Relevant information on the H-Y antigen is discussed.

MeSH Terms
Adolescent Adult Aged Child Child, Preschool Female Humans Infant Infant, Newborn Infertility, Male/genetics Karyotyping Male Middle Aged Oligospermia/genetics Sex Chromosome Aberrations Sex Chromosomes/ultrastructure Sex Determination Analysis Testis/growth & development Turner Syndrome/genetics Y Chromosome/ultrastructure
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Davis R M
References (274)
274 references, click to expand
  1. Structural abnormalities of the Y chromosome and abnormal external genitals.
    Hum Genet. 1980 Feb;53(2):183-8 PMID: 7188927
  2. Letter: Possible evidence for Xp plus in and XX Male.
    Lancet. 1974 Jun 15;1(7868):1223 PMID: 4134689
  3. Structural exchange between the X and Y chromosomes as the probable cause of hypogonadism.
    Hereditas. 1970;65(1):97-106 PMID: 5525760
  4. Renovascular hypertension. Prospective diagnostic yield in a random access population.
    Humangenetik. 1973 Dec 20;20(4):375-6 PMID: 4768114
  5. Pericentric Y inversion in the general population.
    Humangenetik. 1973 Sep 20;19(3):265-70 PMID: 4763930
  6. Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12).
    Hum Genet. 1979;50(1):45-9 PMID: 468260
  7. Possible evidence of X-Y interchange in an XX male.
    Lancet. 1977 Mar 5;1(8010):550 PMID: 65650
  8. Structural variation in human nitotic chromosomes.
    Ann Acad Sci Fenn Biol. 1971;179:1-69 PMID: 4261167
  9. Pitfalls in prenatal diagnosis resulting from chromosomal mosaicism.
    J Pediatr. 1972 Feb;80(2):297-9 PMID: 4109473
  10. 45,XO/46,XYg dic mosaicism in a patient with ambiguous genitalia.
    Clin Genet. 1976 Mar;9(3):365-70 PMID: 1261075
  11. Turner's syndrome and 46,X,i(Yq) karyotype.
    J Med Genet. 1974 Dec;11(4):403-6 PMID: 4443992
  12. Cytogenetics and somatic cell genetics: the impact of chromosome banding.
    Birth Defects Orig Artic Ser. 1977;13(6):79-103 PMID: 72574
  13. [Familial translocation 22/Y and partial autosomal trisomy in a young girl].
    J Genet Hum. 1979 Mar;27(1):45-51 PMID: 573310
  14. Assignment of the H-Y antigen gene to the short arm of chromosome Y.
    J Hered. 1979 Jan-Feb;70(1):78-80 PMID: 469228
  15. A familial Y-22 translocation in man.
    Hereditas. 1973;74(1):155-60 PMID: 4758983
  16. [Satellited Y chromosome (Yqs) and nucleolar organizer occurring de novo].
    Ann Genet. 1978 Dec;21(4):239-42 PMID: 314264
  17. [A case of dicentric Y in a male pseudohermaphrodite with complex gonosomal mosaicism].
    Ann Genet. 1969 Dec;12(4):253-8 PMID: 5309417
  18. A probable partial deletion of the Y chromosome in an intersex patient.
    Lancet. 1961 Aug 5;2(7197):294-5 PMID: 13695001
  19. Male pseudohermaphroditism with 45X-46XYq- mosaicism in a pair of monozygotic twins.
    Clin Genet. 1974;5(2):133-43 PMID: 4857285
  20. The spectrum of gonadal dysgenesis. A clinical, cytogenetic, and pathologic study.
    Am J Obstet Gynecol. 1967 May 15;98(2):151-72 PMID: 6023669
  21. X-XY mosaicism with short y.
    Clin Genet. 1974;5(3):211-7 PMID: 4134782
  22. Length heteromorphisms of fluorescent (f) and non-fluorescent (nf) segments of human Y chromosome: classification, frequencies, and incidence in normal Caucasians.
    J Med Genet. 1978 Aug;15(4):277-81 PMID: 712759
  23. TRIPLOID INTERSEXES IN DROSOPHILA MELANOGASTER.
    Science. 1921 Sep 16;54(1394):252-4 PMID: 17769897
  24. Organization in vitro of ovarian cells into testicular structures.
    Hum Genet. 1978 Nov 16;44(3):333-8 PMID: 730171
  25. Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).
    J Med Genet. 1969 Dec;6(4):422-5 PMID: 5365951
  26. XO-XY-Xy mosaicism and Turner's syndrome in an 18-year-old girl.
    Ann Genet. 1966 Jun;9(2):86-90 PMID: 5296441
  27. Confirmation of Y/autosome translocation using recombinant DNA.
    Hum Genet. 1979;50(1):39-44 PMID: 468259
  28. [Male pseudohermaphroditism and mosaicism 45,X-46,XYdic-46,XXq-].
    Ann Genet. 1968 Mar;11(1):62-5 PMID: 5301760
  29. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).
    Lancet. 1959 Apr 4;1(7075):711-3 PMID: 13642858
  30. [Genetics of sex differentiation in humans].
    Munch Med Wochenschr. 1966 Sep 2;108(35):1726-31 PMID: 6014879
  31. [Translocation 46,X, t(Y;7)(q122;q11) in a case of male sterility].
    Ann Genet. 1976 Sep;19(3):210-2 PMID: 1086632
  32. Non-fluorescence of the Y-chromosome.
    Lancet. 1971 Jul 31;2(7718):270-1 PMID: 4104814
  33. A new variant of Klinefelter's syndrome with a presumptive deleted Y chromosome.
    Ann Intern Med. 1967 Oct;67(4):825-31 PMID: 6052857
  34. A phenotypic male with karyotype 45,X:45,X,ace+(?Yg--).
    Humangenetik. 1972;15(4):319-26 PMID: 4634448
  35. Abnormal sexual development associated with sex chromosome mosaicism. Report of three cases.
    Pediatrics. 1962 May;29:703-13 PMID: 13892575
  36. Probable long-arm deletion of Y chromosome in boy of short stature.
    Lancet. 1973 Mar 17;1(7803):608 PMID: 4120673
  37. XO and male phenotype.
    Am J Dis Child. 1974 Jul;128(1):90-1 PMID: 4834988
  38. A "Philadelphia-like" chromosome derived from the Y in a patient with refractory dysplastic anemia.
    Blood. 1973 Nov;42(5):799-804 PMID: 4746103
  39. Subdivision of the human Y chromosome.
    Humangenetik. 1974;24(1):59-65 PMID: 4139099
  40. Mapping the locus of the H-Y gene on the human Y chromosome.
    Science. 1977 Dec 2;198(4320):940-2 PMID: 929180
  41. Y to X translocation in man.
    Hum Genet. 1977 Apr 15;36(2):129-41 PMID: 858625
  42. X-autosome translocation with a 47,XXXY qs,t(9p-;Xq+) karyotype.
    Birth Defects Orig Artic Ser. 1975;11(5):247-53 PMID: 1240775
  43. KARYOTYPES OF 130 CHILDLESS MEN.
    Lancet. 1965 Sep 4;2(7410):493-4 PMID: 14337844
  44. Partial XYY syndrome.
    Humangenetik. 1971;12(4):323-9 PMID: 5564361
  45. Non-fluorescent Y chromosome in a 45,X-46,XY mosaic.
    Ann Genet. 1972 Jun;15(2):107-10 PMID: 4537721
  46. Heteromorphic X chromosomes in 46,XX males?
    Hum Genet. 1979 Nov;52(2):157-67 PMID: 511171
  47. H-Y gene expression in apparent absence of the long arm of the Y chromosome.
    Am J Med Genet. 1979;4(2):135-9 PMID: 117709
  48. 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
  49. Testis-determining H-Y antigen in XO males of the mole-vole (Ellobius lutescens).
    Cell. 1977 Apr;10(4):729-32 PMID: 862027
  50. Gonadoblastoma. A review of 74 cases.
    Cancer. 1970 Jun;25(6):1340-56 PMID: 4193741
  51. Triple mosaicism with an isochromosome derived from a partially deleted Y in a male pseudohermaphrodite.
    Pediatrics. 1963 Jul;32:56-62 PMID: 14033478
  52. The role of the H-Y antigen in human sexual development.
    Johns Hopkins Med J. 1979 Aug;145(2):33-43 PMID: 459202
  53. Inconsistent expression of both centromeres of a dicentric Y chromosome in a child with ambiguous external genitalia.
    J Med Genet. 1978 Jun;15(3):232-6 PMID: 671491
  54. Sex chromosome anomalies detection and fluorescence.
    Acta Paediatr Scand. 1973 May;62(3):307-8 PMID: 4703024
  55. [Mitotic and meiotic analysis of an Y-autosome translocation(author's transl)].
    Humangenetik. 1975;27(3):241-5 PMID: 1150244
  56. Length variation in the quinacrine-binding segment of human Y chromosomes of different sizes.
    Cytogenetics. 1971;10(3):190-8 PMID: 5156693
  57. [Monolateral gonadal dysgenesis with X00-XY mosaicism].
    Minerva Pediatr. 1966 Oct 27;18(32):1903-8 PMID: 5995842
  58. 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
  59. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.
    Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245-9 PMID: 265567
  60. Isochromosome for the long arm of the Y in an infertile male.
    Hum Genet. 1978 Jan 19;40(2):227-30 PMID: 624551
  61. Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism.
    Clin Genet. 1977 Mar;11(3):235-40 PMID: 65235
  62. Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro.
    Hum Genet. 1978 Nov 16;44(3):349-55 PMID: 730174
  63. Y ring chromosome associated with gonadoblastoma in situ.
    Obstet Gynecol. 1973 Jun;41(6):897-901 PMID: 4708485
  64. Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism.
    Ann Genet. 1974 Mar;17(1):5-9 PMID: 4546340
  65. Evidence for an association between univalent Y chromosomes and spermatoycte loss in XYY mice and men.
    Cytogenet Cell Genet. 1979;23(1-2):84-9 PMID: 761488
  66. Quinacrine fluorescence of variant and abnormal human Y chromosomes.
    Chromosoma. 1971;35(3):342-52 PMID: 5133546
  67. [Translocation of the Y chromosome to an autosome in a boy with hypogonadism (author's transl)].
    Hum Genet. 1976 Aug 30;33(3):335-6 PMID: 964995
  68. Mitotic behavior of a human dicentric Y chromosome.
    Cytogenetics. 1971;10(3):208-18 PMID: 5156695
  69. Y chromosome fluorescence in phenotypic females.
    J Obstet Gynaecol Br Commonw. 1972 Jun;79(6):498-503 PMID: 4113480
  70. Streak gonads and the Y chromosome.
    J Obstet Gynaecol Br Commonw. 1971 May;78(5):448-57 PMID: 5558332
  71. [Hereditary transmission for 300 years of a satellited Y chromosome in a family].
    Ann Genet. 1973 Mar;16(1):35-8 PMID: 4541807
  72. [Deletion of the long arm of the Y chromosome and multiple malformations. Description of a case].
    Minerva Pediatr. 1979 May 15;31(9):729-31 PMID: 460118
  73. 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
  74. Problems in prenatal diagnosis resulting from chromosomal mosaicism.
    Clin Genet. 1972;3(2):83-9 PMID: 4115480
  75. Prenatal evaluation in a case of familial Y chromosome long arm deletion (Yq-).
    J Med Genet. 1974 Dec;11(4):367-70 PMID: 4443985
  76. Y to X translocation in a woman with reproductive failure. A new rearrangement.
    JAMA. 1973 Oct 29;226(5):544-9 PMID: 4126829
  77. An azoospermic male with a Y/autosome translocation.
    Hum Genet. 1979 Jan 25;46(2):155-8 PMID: 422199
  78. A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.
    Cytogenet Cell Genet. 1976;17(1):42-50 PMID: 949907
  79. Mosaicism presumably related to a Y/6 translocation in a boy with multiple congenital abnormalities.
    J Med Genet. 1977 Oct;14(5):378-81 PMID: 592355
  80. Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue.
    Cytogenet Cell Genet. 1978;20(1-6):365-72 PMID: 648187
  81. [A rare structural anomaly of the Y chromosome: Y ring (author's transl)].
    Arch Genet (Zur). 1974;47(1):52-9 PMID: 4469774
  82. Male with 45,X karyotype.
    Clin Genet. 1977 Aug;12(2):97-100 PMID: 891018
  83. A patient with 45,X-46,XXq--46,XXq-dic karyotype.
    J Med Genet. 1971 Dec;8(4):513-6 PMID: 5149536
  84. Cytogenetic polymorphism or Y/15 translocation in a black male with ambiguous genitalia.
    J Genet Hum. 1978 Dec;26(4):405-9 PMID: 752070
  85. Deletion of the long arms of the Y chromosome with normal male development and intelligence.
    J Med Genet. 1974 Jun;11(2):208-11 PMID: 4841088
  86. Population cytogenetic investigation of newborns in Moscow.
    Humangenetik. 1974 May 17;22(2):139-52 PMID: 4858449
  87. CLINICAL AND CYTOGENETICAL STUDIES IN FEMALE GONADAL DYSGENESIS AND THEIR BEARING ON THE CAUSE OF TURNER'S SYNDROME.
    Cytogenetics. 1964;3:355-83 PMID: 14267131
  88. Reassessment of presumed Y/22 and Y/15 translocations in man using a new technique.
    Cytogenet Cell Genet. 1979;23(1-2):90-4 PMID: 83932
  89. Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients.
    Birth Defects Orig Artic Ser. 1971 May;7(6):210-4 PMID: 5173164
  90. XO/XY mosaicism and non-fluorescing Y chromosome in a male.
    Hum Genet. 1978 Dec 29;45(3):331-8 PMID: 738732
  91. Unstable dicentric iso(Yq) chromosome in a pseudohermaphrodite.
    Am J Med Genet. 1978;1(3):265-9 PMID: 567011
  92. 45,X-46,Xr(Y) in a case of asymmetrical testicular differentiation.
    Ann Genet. 1974 Mar;17(1):37-40 PMID: 4546344
  93. Occurrence of tumors in dysgenetic gonads.
    Cancer. 1967 Aug;20(8):1301-10 PMID: 4291636
  94. Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations.
    Birth Defects Orig Artic Ser. 1975;11(4):23-59 PMID: 1098702
  95. Y-21 translocation with gonadal and renal dysgenesis and cardiac rupture.
    Am J Dis Child. 1974 Oct;128(4):560-3 PMID: 4416920
  96. Robertsonian translocation between the chromosome Y and 15.
    Humangenetik. 1974;23(4):305-9 PMID: 4138806
  97. Short Y chromosome and Ph1 chromosome in acute monomyelocytic leukaemia.
    Lancet. 1978 Mar 25;1(8065):667 PMID: 76205
  98. True hermaphroditism: a clinical description and a proposed function for the long arm of the Y chromosome.
    J Pediatr Surg. 1978 Jun;13(3):293-301 PMID: 671194
  99. Structural aberrations of the X chromosome in man.
    Hum Genet. 1978 Apr 24;41(3):269-79 PMID: 649155
  100. Y-22 translocation in a YY male.
    Cytogenet Cell Genet. 1973;12(1):53-9 PMID: 4707248
  101. X/XYq - mosaicism and mixed gonadal dysgenesis.
    J Med Genet. 1977 Aug;14(4):262-5 PMID: 926138
  102. [Mosaic form of deletion of the long arm of Y chromosome in Down's syndrome].
    Cas Lek Cesk. 1976 Jan 9;115(1):9-13 PMID: 129282
  103. Chromosome studies on testicular cells from 50 subfertile men.
    Lancet. 1966 Jul 9;2(7454):69-71 PMID: 4161021
  104. [Transmission of a small Y through 11 generations in a familial line].
    Ann Genet. 1970 Dec;13(4):233-8 PMID: 5313887
  105. 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
  106. A patient with a dicentric Y chromosome.
    Clin Genet. 1974;6(4):326-31 PMID: 4442236
  107. 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
  108. H-Y antigen-positive male pseudohermaphroditism with 45,X/46,XYq-mosaicism.
    Hum Genet. 1979;53(1):57-63 PMID: 535903
  109. A case of human intersexuality having a possible XXY sex-determining mechanism.
    Nature. 1959 Jan 31;183(4657):302-3 PMID: 13632697
  110. Father and son with karyotype 47,XY,?Yq-.
    Humangenetik. 1971;11(3):247-52 PMID: 5101663
  111. XO/XY mosaicism with non fluorescent Y chromosome: clinical, cytogenetic and endocrinological studies on a female subject.
    Acta Eur Fertil. 1977 Dec;8(4):283-96 PMID: 610313
  112. Y/autosomal translocations.
    Clin Genet. 1976 Jun;9(6):609-17 PMID: 1277572
  113. Quinacrine mustard fluorescence of a second Y chromosome in a Y-autosomal translocation.
    Humangenetik. 1972;14(2):133-6 PMID: 4112732
  114. Structural abnormalities of the Y chromosome in man.
    Nature. 1966 Apr 23;210(5034):352-4 PMID: 5963227
  115. H-Y antigen and the genetics of sex determination.
    Science. 1977 Nov 25;198(4319):797-9 PMID: 335511
  116. A satellited human Y chromosome: an evidence of autosome gonosome translocation. A preliminary note.
    Can J Genet Cytol. 1967 Sep;9(3):589-95 PMID: 4229792
  117. Meiotic studies on a subfertile patient with a ring Y chromosome.
    Cytogenetics. 1971;10(4):295-304 PMID: 5127018
  118. Localisation of a male-specific DNA fragment to a sub-region of the human Y chromosome.
    Nature. 1978 Mar 23;272(5651):324-8 PMID: 76288
  119. [Detection of sex-chromosome anomalies in newborn infants (author's transl)].
    Wien Klin Wochenschr. 1975 Feb 21;87(4):126-30 PMID: 1130080
  120. A child with 49 chromosomes.
    Lancet. 1960 Oct 22;2(7156):899-902 PMID: 13701146
  121. Communications and commentaries: A 46,XYq- male with aspermia.
    Fertil Steril. 1973 Oct;24(10):811-3 PMID: 4742003
  122. Mosaics and chimaeras.
    Br Med Bull. 1969 Jan;25(1):104-9 PMID: 4882437
  123. Histopathologic study with cytogenetic correlation in 20 cases of gonadal dysgenesis.
    Am J Clin Pathol. 1972 Apr;57(4):449-56 PMID: 5012936
  124. A man with presumptive Y/Y translocation, observed in a forensic psychiatric department.
    Clin Genet. 1976 Aug;10(2NA-NA-760903-760909):82-8 PMID: 954229
  125. Satellites on the long Y chromosome arm: a familial Y-autosome translocation in man.
    Cytogenetics. 1969;8(6):415-26 PMID: 5365247
  126. The Y-linked H-Y antigen locus and the X-linked Tfm locus as major regulatory genes of the mammalian sex determining mechanism.
    J Steroid Biochem. 1977 May;8(5):585-92 PMID: 599929
  127. Chromosome mosaicism in a hermaphrodite.
    J Med Genet. 1965 Dec;2(4):246-50 PMID: 5859030
  128. Gonadoblastoma occurring in a female with XO-XY fragment gonadal dysgenesis.
    Am J Obstet Gynecol. 1971 Feb 15;109(4):564-9 PMID: 5100080
  129. Sex chromosome mosaicism of X/XY or X/XY/XYY.
    Birth Defects Orig Artic Ser. 1975;11(5):255-66 PMID: 1218222
  130. Unstable ring Y chromosome in an aspermic male.
    Hum Genet. 1979 Apr 5;47(3):227-31 PMID: 457111
  131. Four new cases of Dicentric Y chromosomes.
    Hum Genet. 1977 May 10;36(3):249-60 PMID: 852871
  132. Translocation of a supernumerary Y to a 15: study of six cases (three males and three females) in three generations.
    Hum Genet. 1979 Apr 27;48(2):191-4 PMID: 457142
  133. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome.
    Am J Obstet Gynecol. 1976 Feb 1;124(3):293-300 PMID: 1247071
  134. E trisomy phenotype associated with small metacentric chromosome and a familial Y-22 translocation.
    Birth Defects Orig Artic Ser. 1976;12(5):97-104 PMID: 953249
  135. 45,X-45,X, ace(?Yp)plus-46,X,r(Y) in a phenotypically normal newborn male.
    Humangenetik. 1974 May 17;22(2):177-80 PMID: 4135787
  136. Appearance of hCG-receptor after conversion of newborn ovarian cells into testicular structures by H-Y antigen in vitro.
    Hum Genet. 1978 Dec 18;45(2):203-7 PMID: 216626
  137. A case of a reciprocal translocation between the Y and no. 1 chromosomes.
    Jinrui Idengaku Zasshi. 1978 Sep;23(3):225-31 PMID: 732018
  138. Analytic review: nature and origin of males with XX sex chromosomes.
    Am J Hum Genet. 1972 Jan;24(1):71-105 PMID: 4622299
  139. Antenatal genetic diagnosis in a kindred with a 15p plus chromosome.
    Clin Genet. 1973 Jun;4(6):464-73 PMID: 4132613
  140. A boy with 46, X, del, Y, due to a de nove mutation.
    Hum Hered. 1975;25(6):472-6 PMID: 1225821
  141. [A satellited Y chromosome].
    Ann Genet. 1978 Dec;21(4):237-8 PMID: 314263
  142. Human male infertility, probably genetically determined, due to defective meiosis and spermatogenic arrest.
    Am J Hum Genet. 1979 Sep;31(5):634-41 PMID: 574357
  143. Cytogenetical and clinical investigations in four subjects with anomalies of sexual development.
    Science. 1967 Jan 13;29(3):281-304 PMID: 6015534
  144. Cytogenetics and infertility in man. II. Testicular histology and meiosis.
    Ann Hum Genet. 1976 Nov;40(2):165-76 PMID: 1015811
  145. [A case of primary amenorrhea with predominant Y-D translocation].
    Rev Iber Endocrinol. 1968 Jul-Aug;15(88):423-9 PMID: 5752094
  146. Ring Y chromosome without mosaicism.
    Birth Defects Orig Artic Ser. 1976;12(5):105-12 PMID: 953209
  147. Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics.
    Hereditas. 1971;68(2):317-24 PMID: 4142012
  148. Comparative studies in two cases of testicular feminization syndrome, one with and the other without the fluorescent distal band q12 of the Y.
    Hum Genet. 1978 Jun 9;42(2):119-27 PMID: 208959
  149. EXCEPTIONAL INHERITANCE OF A SEX-LINKED GENE IN THE MOUSE EXPLAINED ON THE BASIS THAT THE X/O SEX-CHROMOSOME CONSTITUTION IS FEMALE.
    Proc Natl Acad Sci U S A. 1959 Apr;45(4):554-60 PMID: 16590412
  150. Gonadal dysgenesis associated with a very rare XO-X+ "fragment" chromosomal mosaicism (a case report).
    Gynaecologia. 1967;164(2):83-8 PMID: 6049653
  151. Length of the Y chromosome in criminal males.
    Clin Genet. 1972;3(4):281-5 PMID: 5054321
  152. Chromosome studies in couples with repeated spontaneous abortions.
    Obstet Gynecol. 1976 Apr;47(4):463-8 PMID: 943737
  153. A case of ring Y chromosome.
    Hum Genet. 1978 May 16;42(1):89-91 PMID: 649173
  154. CHROMOSOME STUDIES ON TESTICULAR TISSUE CULTURES AND BLOOD LEUKOCYTES OF A MALE PREVIOUSLY REPORTED TO HAVE NO Y CHROMOSOME.
    N Engl J Med. 1964 Sep 17;271:586-92 PMID: 14172968
  155. A strongly fluorescing abnormal chromosome in a malformed child.
    Humangenetik. 1971;12(1):64-6 PMID: 4104180
  156. Centromere inactivation in a case of Turner variant with two dicentric iso-long arm Y chromosomes.
    Hum Genet. 1978 Mar 17;41(2):217-23 PMID: 565337
  157. A Y-autosome translocation 46,X,t(Yq-7q+) associated with multiple congenital anomalies.
    J Pediatr. 1973 Mar;82(3):495-8 PMID: 4349228
  158. [Essential testicle hypotrophy, confluent sebaceous adenomatosis of the face, caryotype 46,XY-46,XYpi-47,XYpiYpi].
    Ann Endocrinol (Paris). 1970 Nov-Dec;31(6):1183-92 PMID: 5509949
  159. 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
  160. Induction of distinctive chromosomal bands in selected human subjects with D, G, and Y chromosome anomalies.
    Hum Hered. 1973 Apr;23(4):313-30 PMID: 4130026
  161. Translocation Y/5 resulting in Cri du Chat syndrome.
    Clin Genet. 1977 Dec;12(6):319-22 PMID: 589854
  162. XO-XY mosaicism and nonfluorescent Y chromosome.
    Obstet Gynecol. 1973 Sep;42(3):421-8 PMID: 4724411
  163. Minute Y chromosome.
    Ann Genet. 1971 Jun;14(2):145-8 PMID: 5314803
  164. Contraceptives and the conceptus. I. Chromosome abnormalities of the fetus and neonate related to maternal contraceptive history.
    Obstet Gynecol. 1976 Jul;48(1):40-8 PMID: 934573
  165. The XY female.
    J Obstet Gynaecol Br Commonw. 1967 Jun;74(3):353-66 PMID: 6026613
  166. Chromosome survey of newborn infants in Tokyo: follow-up study for XYY.
    Birth Defects Orig Artic Ser. 1979;15(1):161-74 PMID: 444639
  167. Hypogonadism associated with chromosomal break in autosome no. 2 and translocation presumably on the Y chromosome.
    J Clin Endocrinol Metab. 1965 Sep;25(9):1246-50 PMID: 5830943
  168. CLINICAL, HISTOLOGIC, AND CYTOGENETIC FINDINGS IN MALE HERMAPHRODITISM. I. MALE HERMAPHRODITISM WITH AMBIGUOUS OR PREDOMINANTLY MASCULINE EXTERNAL GENITALIA.
    Obstet Gynecol. 1965 May;25:597-606 PMID: 14289519
  169. Isochromosome Y (46,X,i(Yq)) and female phenotype.
    Clin Genet. 1973;4(5):410-4 PMID: 4751309
  170. Normal male development with Y chromosome long arm deletion (Yq-).
    J Med Genet. 1972 Sep;9(3):373-7 PMID: 5079110
  171. A boy with 47,X,del(X)(p11leads to q13:q21leads to q24),del(Y)(q11):reexamination of a case previously described as 47,XX,?Yq-.
    Hum Genet. 1976 Feb 29;31(2):227-30 PMID: 1248832
  172. An unusual sex chromatin pattern in three mentally deficient subjects.
    J Ment Defic Res. 1959 Dec;3:78-87 PMID: 13797014
  173. Polymorphism of the human Y chromosomes: fluorescence microscopic studies on the sites of morphologic variation.
    Clin Genet. 1972;3(2):116-22 PMID: 4115479
  174. A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9.
    Hum Genet. 1976 Oct 28;34(2):223-5 PMID: 137204
  175. Silver stain reveals nucleolus organizer regions on a satellited Yq chromosome.
    Hum Genet. 1978 Jun 27;42(3):245-50 PMID: 149754
  176. 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
  177. [45,X/46,SYq dic-Sexchromosome mosaic].
    Humangenetik. 1975;27(2):81-90 PMID: 1150238
  178. Genetic Analysis of the Male Fertility Factors on the Y Chromosome of Drosophila Melanogaster.
    Genetics. 1960 Mar;45(3):257-74 PMID: 17247923
  179. Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.
    Hum Genet. 1977 Dec 23;39(3):277-81 PMID: 598835
  180. Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karotype 45,X-46,X,i(Yp).
    Humangenetik. 1973;19(1):57-66 PMID: 4725910
  181. Possible role for H--Y antigen in the primary determination of sex.
    Nature. 1975 Sep 18;257(5523):235-6 PMID: 1161026
  182. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
    Clin Genet. 1975 Oct;8(4):223-43 PMID: 1183067
  183. Gonadoblastoma (gonocytoma 3). Report of a case.
    Obstet Gynecol. 1967 Jan;29(1):54-8 PMID: 6017945
  184. Quinacrine fluorescence of the human Y chromosome.
    Nature. 1971 Mar 5;230(5288):52 PMID: 4102824
  185. [13q+ chromosome due to a probable translocation of a supernumerary Y].
    Ann Genet. 1973 Sep;16(3):167-72 PMID: 4543205
  186. N-band polymorphism of human acrocentric chromosomes and its relevance to satellite association.
    Hum Genet. 1977 Apr 7;36(1):55-61 PMID: 67073
  187. [Translocation t(Y;14) in an azoospermic man].
    Ann Genet. 1976 Sep;19(3):207-9 PMID: 1086631
  188. X-Y translocation.
    Am J Obstet Gynecol. 1973 Jun 15;116(4):584-5 PMID: 4122722
  189. Triple chromosomal mosaic in a woman with clinical evidence of a masculinisation.
    Lancet. 1962 Jun 30;1(7244):1379-81 PMID: 13894416
  190. Testicular cells lysostripped of H-Y antigen organize ovarian follicle-like aggregates.
    Cytogenet Cell Genet. 1978;20(1-6):351-64 PMID: 77209
  191. A SEX CHROMATIN NEGATIVE INDIVIDUAL WITH CHROMOSOMES (XO) PLUS A PERSISTENT CENTRIC FRAGMENT.
    J Pediatr. 1965 Jan;66:120-3 PMID: 14253578
  192. [Deviations in the sex chromosome findings of a rare special form of intersexuality with missing internal genital organs].
    Cytogenetics. 1965;4(6):349-64 PMID: 5893750
  193. A presumptive Y-autosome translocation in a boy with congenital malformations.
    Am J Dis Child. 1968 Aug;116(2):205-10 PMID: 5659300
  194. BSu restriction of DNA from cases exhibiting sex-chromosome abnormalities.
    Cytogenet Cell Genet. 1978;20(1-6):59-69 PMID: 648190
  195. [Dicentric Y chromosome in a male pseudohermaphrodite 45,X/46,X, dic (Y)/47, XYY].
    Ann Genet. 1977 Sep;20(3):185-9 PMID: 304702
  196. Localization of male determining factor on short arm of Y chromosome. Case report of a baby with 46, x, t (Yp+;14q-).
    Clin Genet. 1972;3(5):381-7 PMID: 4673472
  197. Ring Y chromosome: 45,X/46,Xr(Y) chromosome mosaicism in a phenotypically normal male with azoospermia.
    Hum Genet. 1976 Sep 10;34(1):99-102 PMID: 965013
  198. [Structural abnormalities and role of the Y chromosome in man].
    Pathol Biol (Paris). 1971 Mar;19(5):231-49 PMID: 4929989
  199. Oligozoospermia: a seven-year survey of the incidence, chromosomal aberrations, treatment and pregnancy rate.
    Int J Fertil. 1975;20(3):129-32 PMID: 4390
  200. Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma.
    Humangenetik. 1975;27(3):251-3 PMID: 1150246
  201. Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.
    J Med Genet. 1979 Jun;16(3):166-75 PMID: 469894
  202. Apparent pseudopuberty in a phenotypic female with a gonadal tumor and an autosome-Y chromosome translocation.
    Am J Obstet Gynecol. 1974 Jul 1;119(5):661-8 PMID: 4834391
  203. [8 cases of XO-XY mosaicism, one XO-XYq--with gonadoblastoma].
    Union Med Can. 1969 Oct;98(10):1667-85 PMID: 5400063
  204. Isochromosome Yq in a woman with atypical Turner's syndrome.
    Hum Genet. 1977 Aug 31;38(1):49-55 PMID: 561748
  205. Mixed gonadal dysgenesis with Turner phenotype and XO-XYq- mosaicism.
    Jinrui Idengaku Zasshi. 1970 Sep;15(2):103-13 PMID: 5532253
  206. Lateral asymmetry in the fluorescence of human Y chromosomes stained with 33 258 Hoechst.
    Exp Cell Res. 1974 Aug;87(2):425-9 PMID: 4137743
  207. Presumptive Y/D translocation in mixed gonadal dysgenesis.
    J Med Genet. 1967 Mar;4(1):36-40 PMID: 6034520
  208. An eleven-generation satellited Y chromosome.
    Lancet. 1972 May 13;1(7759):1073 PMID: 4112215
  209. The XY female.
    Am J Obstet Gynecol. 1971 Mar 1;109(5):675-88 PMID: 5101599
  210. The anatomy and histology of XO human embryos and fetuses.
    Anat Rec. 1966 Jul;155(3):369-83 PMID: 5956901
  211. Chromosome aberrations in XO-XY mosaic individuals and their fathers.
    Am J Obstet Gynecol. 1967 Dec 15;99(8):1056-66 PMID: 6065298
  212. Prepubertal XY gonadal dysgenesis.
    Pediatrics. 1977 Apr;59(4):569-73 PMID: 557787
  213. A male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study.
    Humangenetik. 1968;6(2):131-41 PMID: 5704431
  214. Chromosome measurements on an XXp+ male.
    Hum Genet. 1976 May 19;32(2):141-2 PMID: 1270072
  215. Presumptive Y-15 translocation and mental retardation in a family with a case of Klinefelter's syndrome.
    J Ment Defic Res. 1973 Sep-Dec;17(3):163-70 PMID: 4137121
  216. Human dicentric Y chromosomes. Case report and review of the literature.
    J Med Genet. 1973 Mar;10(1):74-9 PMID: 4697856
  217. Fluorescence pattern of a dicentric Y.
    Humangenetik. 1971;12(2):170-2 PMID: 4105534
  218. Length of the Y chromosome in a general male population.
    Acta Genet Med Gemellol (Roma). 1973;22:45-9 PMID: 4790796
  219. 45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature.
    Ann Genet. 1977 Dec;20(4):269-72 PMID: 305755
  220. H-Y antigen: localization of the H-Y gene.
    Horm Res. 1978;9(2):102-6 PMID: 624514
  221. Increased frequency of heterozygotes for alpha1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21.
    Nature. 1976 Mar 25;260(5549):320-1 PMID: 1082990
  222. THE Y-CHROMOSOME AS THE BEARER OF MALE DETERMINING FACTORS IN THE MOUSE.
    Proc Natl Acad Sci U S A. 1959 Apr;45(4):560-6 PMID: 16590413
  223. Racial differences in the length of the human Y chromosome.
    Cytogenetics. 1966;5(1):34-52 PMID: 5958871
  224. Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma.
    Am J Dis Child. 1979 Mar;133(3):277-82 PMID: 570803
  225. Structural abnormalities of the sex chromosomes.
    Br Med Bull. 1969 Jan;25(1):94-8 PMID: 4882440
  226. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.
    Hum Genet. 1976 Oct 28;34(2):119-24 PMID: 1002136
  227. Familial transmission of a translocation Y/14.
    Hum Genet. 1979;53(1):125-7 PMID: 575349
  228. Meiotic chromosomes in an infertile male with an unbalanced Y/13 translocation.
    Hum Genet. 1977 Jul 26;37(3):249-54 PMID: 885543
  229. A human satellited Y chromosome with a probably illegitimate paternal origin.
    Can Med Assoc J. 1972 Dec 23;107(12):1205-6 PMID: 4638423
  230. Letter: Brilliantly fluorescing enlarged short arms D or G.
    Lancet. 1974 May 25;1(7865):1049-50 PMID: 4133722
  231. Nonmosaic 46,X,r(Y) karyotype with female phenotype.
    Hum Genet. 1977 Oct 14;38(3):351-6 PMID: 914284
  232. Three dicentric Y chromosomes.
    Ann Hum Genet. 1970 Jul;34(1):39-50 PMID: 5529233
  233. The 48, XXXX/49,XXXXY/49,XXXX,i(Yq) mosaicism in a 3-year-old boy from a twin pregnancy.
    Hum Genet. 1977 Jul 26;37(3):355-9 PMID: 560352
  234. [Mitotic and meiotic studies on 70 cases of male sterility (author's transl)].
    Andrologie. 1973;5(3):193-200 PMID: 4765049
  235. Abnormalities of human sex chromosomes. I. A ring Y without mosaiciam.
    Ann Genet. 1973 Dec;16(4):225-31 PMID: 4544085
  236. [Trisomy 21 and metacentric Y].
    Ann Genet. 1970 Sep;13(3):187-9 PMID: 5313146
  237. Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.
    J Med Genet. 1978 Apr;15(2):154-7 PMID: 641952
  238. [Cheilognatho-urano-staphyloschisis associated with t(Y;13)].
    Minerva Pediatr. 1974 Mar 24;26(10):525-30 PMID: 4827606
  239. Bilateral gonadoblastoma in a phenotypic female with 45,X/46,X, dicentric iso Y [45,X/46,X,idic(Yq)] mosaicism.
    Birth Defects Orig Artic Ser. 1978;14(6C):109-22 PMID: 569512
  240. Yq deletion, aspermia, and short stature.
    Hum Genet. 1977 Nov 2;39(1):117-22 PMID: 924439
  241. Y-chromosomal genes in a phenotypic male with a 46XX karyotype.
    JAMA. 1976 Nov 29;236(22):2505-8 PMID: 1036513
  242. [Structural abnormalities of the Y chromosome. Observations in ten cases].
    J Genet Hum. 1979 Mar;27(1):53-66 PMID: 479854
  243. Research on the origin of a small Y chromosome several hundred years old.
    Ann Genet. 1972 Mar;15(1):51-3 PMID: 4537615
  244. Non-fluorescent Y-chromosome.
    Helv Paediatr Acta. 1974 Nov;29(5):447-56 PMID: 4141700
  245. Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic.
    Ann Hum Genet. 1975 Oct;39(2):231-54 PMID: 1052767
  246. [Familial mosaicism with G ring].
    Humangenetik. 1969;7(4):275-86 PMID: 5365569
  247. Deletion of Y chromosome in a family with muscular dystrophy and hypospadias.
    Br Med J. 1962 Feb 3;1(5274):291-4 PMID: 14477078
  248. Gonadal dysgenesis and its unilateral variant with testis in monozygous twins: related to discordance in sex chromosomal status.
    J Clin Endocrinol Metab. 1966 Dec;26(12):1282-92 PMID: 6006360
  249. [Human diseases caused by chromosomal aberrations].
    Rev Fr Etud Clin Biol. 1960 Apr;5:341-7 PMID: 13839985
  250. [A 45 X/46 X dic (Yq) puberal male without genital ambiguity. Critical study of the peculiarities of his phenotype].
    Arch Fr Pediatr. 1979 Feb;36(2):162-72 PMID: 444011
  251. Familial Y/22 translocation in a woman.
    J Genet Hum. 1978 Dec;26(4):297-301 PMID: 571896
  252. CYTOGENETIC STUDIES IN LEUCOCYTES ON THE GENERAL POPULATION: SUBJECTS OF AGES 65 YEARS AND MORE.
    Ann Hum Genet. 1964 Jun;27:353-65 PMID: 14175200
  253. [Klinefelter's syndrome and hypospadias. Presence of 2 X chromosomes. Rupture of Y chromosome and translocation of its fragments].
    C R Hebd Seances Acad Sci. 1962 Jul 16;255:581-3 PMID: 14461880
  254. A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases.
    Ann Genet. 1978 Mar;21(1):5-11 PMID: 308343
  255. A (Y;15) translocation, 46 chromosomes. Repository identification No. GM-118.
    Cytogenet Cell Genet. 1975;15(6):408-9 PMID: 1225503
  256. Two conceptions in a 45,X woman.
    Am J Med Genet. 1980;5(4):339-43 PMID: 7395915
  257. Sex determination and gonadal differentiation in man. A unifying concept of normal and abnormal sex development.
    Clin Genet. 1971;2(6):379-86 PMID: 5155315
  258. Three cases of sex chromosome mosaicism with a nonfluorescent Y.
    Hum Genet. 1979 Feb 15;46(3):295-304 PMID: 437772
  259. Eosinophilic leukemia with fibrosing endocarditis and short Y chromosome.
    Ann Intern Med. 1972 Aug;77(2):223-8 PMID: 4509093
  260. A familial Y-autosome translocation in man.
    Clin Genet. 1971;2(1):1-6 PMID: 5111751
  261. Prenatal diagnosis of a de novo Y/22 translocation.
    J Med Genet. 1978 Dec;15(6):475-9 PMID: 570605
  262. C and Q bands in long arm of Y chromosomes; are they identical?
    Hum Genet. 1976 Jun 29;32(3):339-41 PMID: 59686
  263. Letter: Y-to-X translocation in a girl.
    Lancet. 1974 Jan 12;1(7846):68-9 PMID: 4128861
  264. A (Y;17) translocation in a fibroblast culture from a female with 46 chromosomes. Repository identification No. GM-2598.
    Cytogenet Cell Genet. 1979;24(3):198 PMID: 573194
  265. XO-XY CHROMOSOME MOSAICISM.
    J Clin Endocrinol Metab. 1963 Nov;23:1090-5 PMID: 14086769
  266. Gonadal dysgenesis with 45,X/46,X,dic(Yp) mosaicism.
    Clin Genet. 1977 Jun;11(6):402-8 PMID: 880739
  267. Mosaicism and lack of fluorescence of Y chromosome.
    Obstet Gynecol. 1975 Sep;46(3):367-70 PMID: 1172221
  268. [45,X/ 46,XX/ 46,XY Mosaic with female phenotype].
    Bull Assoc Anat (Nancy). 1976 Dec;60(171):757-67 PMID: 1030251
  269. X"Y"-XO MOSAICISM IN A PHENOTYPIC INTERSEX; REPORT OF A CASE.
    Am J Clin Pathol. 1965 Mar;43:251-5 PMID: 14270968
  270. [Probable origin of a satellited Y chromosome found in a French-Canadian family].
    Union Med Can. 1973 Dec;102(12):2470-2 PMID: 4772544
  271. Presumptive Y-15 and Y-22 translocation in two families.
    Hereditas. 1972;71(2):339-42 PMID: 4680666
  272. Constancy of the length of human Y chromosome.
    Ann Genet. 1969 Dec;12(4):262-4 PMID: 5309419
  273. De novo translocation t(Yq-; 15p+) in a malformed boy.
    Humangenetik. 1973 Sep 20;19(3):349-52 PMID: 4763942
  274. An XXY male in the mouse.
    Proc Natl Acad Sci U S A. 1961 Apr 15;47:571-5 PMID: 13744851
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1981-06-00
Pages
161-95
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1048703
Subset
IM
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