PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1982 February; 19(1): 49–56.
PMCID: PMC1048819

Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly.

Abstract

Testicular biopsies from eight men with abnormal karyotypes have been examined for histological and cytogenetic evidence of disturbances of meiosis. Quantitative analysis of this material showed one, with a 13;14 Robertsonian translocation, to have apparently normal spermatogenesis. Three patients, one with a 47,XYY and two with 45,XY, inv 9 karyotypes, had an overall depression of spermatogenesis. Four others, all with major chromosomal abnormalities, had apparently normal spermatogenesis until the primary spermatocyte stage. Two of these had sex autosomal translocations. One, 45,Y,t(X;21), had a complete block at MI, the other, 46,X,t(Y;16), had a partial block at spermatid formation. One man with a reciprocal 2;10 translocation showed delay at all stages beyond spermatocyte formation and one man with an inversion of chromosome 3 showed impaired spermatid maturation.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.7M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Koulischer L, Schoysman R. Etude des chromosomes mitotiques et méiotiques chez les hommes infertiles. J Genet Hum. 1975 Oct;23(Suppl):58–70. [PubMed]
  • Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A, Newton M. 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):231–254. [PubMed]
  • Faed MJ, Robertson J, Lamont MA, MacIntosh W, Grieve J, Baxby K, James GB, Crowder AM. A cytogenetic survey of men being investigated for subfertility. J Reprod Fertil. 1979 May;56(1):209–216. [PubMed]
  • Chandley AC, Christie S, Fletcher J, Frackiewicz A, Jacobs PA. Translocation heterozygosity and associated subfertility in man. Cytogenetics. 1972;11(6):516–533. [PubMed]
  • Lamont MA, Faed MJ, Baxby K. Comparative studies of spermatogenesis in fertile and subfertile men. J Clin Pathol. 1981 Feb;34(2):145–150. [PMC free article] [PubMed]
  • EVANS EP, BRECKON G, FORD CE. AN AIR-DRYING METHOD FOR MEIOTIC PREPARATIONS FROM MAMMALIAN TESTES. Cytogenetics. 1964;3:289–294. [PubMed]
  • Luciani JM, Morazzani MR, Stahl A. Identification of pachytene bivalents in human male meiosis using G-banding technique. Chromosoma. 1975 Oct 14;52(3):275–282. [PubMed]
  • Johnsen SG. Testicular biopsy score count--a method for registration of spermatogenesis in human testes: normal values and results in 335 hypogonadal males. Hormones. 1970;1(1):2–25. [PubMed]
  • Averback P, Wight DG. Seminiferous tubule hypercurvature: A newly recognised common syndrome of human male infertility. Lancet. 1979 Jan 27;1(8109):181–183. [PubMed]
  • Faed M, Robertson J, MacIntosh WG, Grieve J. Spermatogenesis in an infertile XYY man. Hum Genet. 1976 Aug 30;33(3):341–347. [PubMed]
  • Winsor EJ, Palmer CG, Ellis PM, Hunter JL, Ferguson-Smith MA. Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet. 1978;20(1-6):169–184. [PubMed]
  • Skakkebaek NE, Hultén M, Jacobsen P, Mikkelsen M. Quantification of human seminiferous epithelium. II. Histological studies in eight 47,XYY men. J Reprod Fertil. 1973 Mar;32(3):391–401. [PubMed]
  • Melnyk J, Thompson H, Rucci AJ, Vanasek F, Hayes S. Failure of transmission of the extra chromosome in subjects with 47,XYY karyotype. Lancet. 1969 Oct 11;2(7624):797–798. [PubMed]
  • Buckton KE, Jacobs PA, Rae LA, Newton MS, Sanger R. An inherited X-autosome translocation in man. Ann Hum Genet. 1971 Oct;35(2):171–178. [PubMed]
  • Dutrillaux B, Couturier J, Rotman J, Salat J, Lejeune J. Stérilité et translocation familiale t (1q-;Xq+. C R Acad Sci Hebd Seances Acad Sci D. 1972 Jun 12;274(24):3324–3327. [PubMed]
  • Lifschytz E, Lindsley DL. The role of X-chromosome inactivation during spermatogenesis (Drosophila-allocycly-chromosome evolution-male sterility-dosage compensation). Proc Natl Acad Sci U S A. 1972 Jan;69(1):182–186. [PubMed]
  • Lopez Pajares I, Delicado A, Cobos PV, Sanchez Corral F, Cuadrado C. An azoospermic male with a Y/autosome translocation. Hum Genet. 1979 Jan 25;46(2):155–158. [PubMed]
  • Dutrillaux B, Gueguen J. Etude méiotique et mitotique dans un cas de translocation t(5;Y) Humangenetik. 1975;27(3):241–245. [PubMed]
  • Laurent C, Dutrillaux B. Translocation t(Y;14) chez un homme azoospermique. Ann Genet. 1976 Sep;19(3):207–209. [PubMed]
  • Román CS, Sordo MT, García-Sagredo JM. Meiosis in two human reciprocal translocations. J Med Genet. 1979 Feb;16(1):56–59. [PMC free article] [PubMed]
  • Winsor EJ, Palmer CG, Ellis PM, Hunter JL, Ferguson-Smith MA. Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet. 1978;20(1-6):169–184. [PubMed]
  • Searle AG. Nature and consequences of induced chromosome damage in mammals. Genetics. 1974 Sep;78(1):173–186. [PubMed]
  • Allderdice PW, Browne N, Murphy DP. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). Am J Hum Genet. 1975 Nov;27(6):699–718. [PubMed]
  • Kawashima H, Maruyama S. A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21). Jinrui Idengaku Zasshi. 1979 Mar;24(1):9–12. [PubMed]
  • Faed MJ, Marrian VJ, Robertson J, Robson EB, Cook PJ. Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the "cri du chat" syndrome. Cytogenetics. 1972;11(5):400–411. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group