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Am J Hum Genet. 1979 Sep; 31(5): 634–641.
PMCID: PMC1685902

Human male infertility, probably genetically determined, due to defective meiosis and spermatogenic arrest.


A family is reported in which infertility affected three men related through their mothers. The propositus, from testicular tissue was obtained, exhibited desynapsis, lack of chiasmata, and degeneration of spermatocytes during the first meiotic division. These observations lead us to postulate that a gene for meiotic disturbance, spermatogenic arrest, and azoospermia is segregating in this family; its mode of inheritance conforms to either an X-linked recessive or a sex-limited autosomal dominant transmission.

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Selected References

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  • Baker BS, Carpenter AT, Esposito MS, Esposito RE, Sandler L. The genetic control of meiosis. Annu Rev Genet. 1976;10:53–134. [PubMed]
  • Hultén M, Solari AJ, Skakkebaek NE. Abnormal synaptonemal complex in an oligochiasmatic man with spermatogenic arrest. Hereditas. 1974;78(1):105–116. [PubMed]
  • Pearson PL, Ellis JD, Evans HJ. A gross reduction in chiasma formation during meiotic prophase and a defective DNA repair mechanism associated with a case of human male infertility. Cytogenetics. 1970;9(6):460–467. [PubMed]
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  • Hotta Y, Chandley AC, Stern H. Biochemical analysis of meiosis in the male mouse. II. DNA metabolism at pachytene. Chromosoma. 1977 Jul 8;62(3):255–268. [PubMed]
  • Purnell DJ. Spontaneous univalence at male meiosis in the mouse. Cytogenet Cell Genet. 1973;12(5):327–335. [PubMed]
  • Phillips RJ, Hawker SG, Moseley HJ. Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments. Genet Res. 1973 Aug;22(1):91–99. [PubMed]
  • Baker BS, Carpenter AT, Ripoll P. The Utilization during Mitotic Cell Division of Loci Controlling Meiotic Recombination and Disjunction in DROSOPHILA MELANOGASTER. Genetics. 1978 Nov;90(3):531–578. [PMC free article] [PubMed]
  • Hultén M, Weerd-Kastelein D, Bootsma D, Solari AJ, Skakkebaek NE, Swanbeck G. Normal chiasma formation in a male with xeroderma pigmentosum. Hereditas. 1974;78(1):117–124. [PubMed]

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