In 1976, Tiepolo and Zuffardi first recognized the deletions of the long arm of the Y chromosome, large enough to be recognized by light microscopy, in six azoospermic men. Large structural rearrangements of the Y chromosome are known to be commonly associated with a 45,X/46,XY chromosomal mosaicism (Siffroi et al. 2000). Majority of Yq deletions are microdeletions and, therefore, require analysis by molecular means (Martin 2008).
Synonyms and Related Disorders
Chromosome Yq deletion syndrome
Role of Yq deletions in male infertility (Ma et al. 2000)
Factors controlling human spermatogenesis: postulated to be located on the distal portion of the euchromatin segment of the long arm of the Y chromosome, Yq11 (Tiepolo and Zuffardi 1976)
This spermatogenesis locus at Yq11.23, as demonstrated with high-resolution banding techniques, has since come to be known as the “azoospermia factor” or “AZF” (Bühler 1985).
Further molecular investigations into...
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- Brown, G. M., Furlong, R. A., Sargent, C. A., et al. (1998). Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene. Human Molecular Genetics, 7, 97–107.PubMedCrossRefGoogle Scholar
- Bühler, E. M. (1985). Clinical and cytologic impact of Y-chromosome abnormalities. In A. A. Sandberg (Ed.), The Y chromosome, part B: Clinical aspects of Y chromosome abnormalities (pp. 61–93). New York: Alan R Liss.Google Scholar
- Martin, R. H. (2008). Cytogenetic determinants of male fertility. Human Reproduction. Update pp. 1–12.Google Scholar
- Patsalis, P. C., Skordis, N., Sismani, C., et al. (2005). Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. American Journal of Medical Genetics, 135, 145–149.PubMedGoogle Scholar
- Takeda, R., & Ueda, M. (1977). Pituitary-gonadal function in male patients with myotonic dystrophy-serum luteinizing hormone, follicle stimulating hormone and testosterone levels and histological damage of the testis. Acta Endocrinologica (Copenhagen), 84, 382–389.Google Scholar