Skip to main content
SpringerLink
Log in

Del(Yq) Syndrome

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 255 Accesses

Abstract

In 1976, Tiepolo and Zuffardi (1976) 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).

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

References

  • Affara, N. A., Florentin, L., Morrison, N., et al. (1986). Regional assignment of Y-linked DNA probes by deletion mapping and their homology with X-chromosome and autosomal sequences. Nucleic Acids Research, 14, 5353–5373.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Allen, V. M., Wilson, R. D., & Cheung, A. (2006). Pregnancy outcomes after assisted reproductive technology. Journal of Obstetrics and Gynaecology Canada, 28, 220–250.

    Article  PubMed  Google Scholar 

  • Andersson, M., Page, D. C., Pettay, D., et al. (1988). Y autosome translocations and mosaicism in the aetiology of 45, X maleness: Assignment of fertility factor to distal Yq11. Human Genetics, 79, 2–7.

    Article  CAS  PubMed  Google Scholar 

  • Anguiano, A., Oates, R. D., Amos, J. A., et al. (1992). Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis. Journal of the American Medical Association, 267, 1794–1797.

    Article  CAS  PubMed  Google Scholar 

  • Bertini, V., Canale, D., Bicocchi, M. P., et al. (2005). Mosaic ring Y chromosome in two normal healthy men with azoospermia. Fertility and Sterility, 84, 1744.

    Article  PubMed  Google Scholar 

  • Bhasin, S. (2007). Approach to the infertile man [review]. Journal of Clinical Endocrinology and Metabolism, 92, 1995–2004.

    Article  CAS  PubMed  Google Scholar 

  • Blendy, J. A., Kaestner, K. H., Weinbauer, G. F., et al. (1996). Severe impairment of spermatogenesis in mice lacking the CREM gene. Nature, 380, 162–165.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • Bühler, E. M. (1980). A synopsis of the human Y chromosome. Human Genetics, 55, 145–175.

    Article  PubMed  Google 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 

  • Cram, D. S., Ma, K., Bhasin, S., et al. (2000). Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: Vertical transmission of deletions and rarity of de novo deletions. Fertility and Sterility, 74, 909–915.

    Article  CAS  PubMed  Google Scholar 

  • Cram, D. S., Osborne, E., & McLachlan, R. I. (2006). Y chromosome microdeletions: Implications for assisted conception. The Medical Journal of Australia, 185, 433–434.

    PubMed  Google Scholar 

  • Cui, Y.-X., Xia, X.-Y., Pan, L.-J., et al. (2007). Gonosomal mosaicism from deleted Y chromosomal nondisjunction. Journal of Andrology, 28, 377–380.

    Article  PubMed  Google Scholar 

  • Elfateh, F., Rulin, D., Xin, Y., et al. (2014). Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligozoospermia in Northeast China. Iranian Journal of Reproductive Medicine, 12, 383–388.

    PubMed  PubMed Central  Google Scholar 

  • Ferlin, A., Arredi, B., & Foresta, C. (2006). Genetic causes of male infertility. Reproductive Toxicology, 22, 133–141.

    Article  CAS  PubMed  Google Scholar 

  • Ferlin, A., Arredi, B., Speltra, E., et al. (2007). Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy. Journal of Clinical Endocrinology and Metabolism, 92, 762–770.

    Article  CAS  PubMed  Google Scholar 

  • Gnoth, C., Godehardt, E., Frank-Herrmann, P., et al. (2005). Definition and prevalence of subfertility and infertility. Human Reproduction, 20, 1144–1147.

    Article  CAS  PubMed  Google Scholar 

  • Hoshi, N., Tonoki, H., Handa, Y., et al. (1998). Prenatal identification of mos 45, X/46, X, +mar in a normal male baby by cytogenetic and molecular analysis. Prenatal Diagnosis, 18, 1316–1322.

    Article  CAS  PubMed  Google Scholar 

  • Hsu, L. Y. (1994). Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. American Journal of Medical Genetics, 53, 108–140.

    Article  CAS  PubMed  Google Scholar 

  • Hwa, H.-L., Ko, T.-M., Chang, Y.-Y., et al. (2004). Prenatal diagnosis of mos46, X, del(Y)(q11.2)/45, S by cytogenetic and molecular studies with multiplex STR analysis. Prenatal Diagnosis, 24, 121–124.

    Article  CAS  PubMed  Google Scholar 

  • Iijima, M., Koh, E., Izumi, K., et al. (2014). New molecular diagnostic kit to assess Y-chromosome deletions in the Japanese population. International Journal of Urology, 21, 910–916.

    Article  CAS  PubMed  Google Scholar 

  • Jaruzelska, J., Korcz, A., Wojda, A., et al. (2001). Mosaicism for 45, X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion. Journal of Medical Genetics, 38, 798–802.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kent-First, M., Muallem, A., Shultz, J., et al. (1999). Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y chromosome microdeletion detection. Molecular Reproduction and Development, 53, 27–41.

    Article  CAS  PubMed  Google Scholar 

  • Kirsch, S., Weiss, B., De Rosa, M., et al. (2000). FISH deletion mapping defines a single location for the Y chromosome stature gene, GCY. Journal of Medical Genetics, 37, 593–599.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Kletzky, O. A., Costin, G., Marrs, R. P., et al. (1979). Gonadotropin insufficiency in patients with thalassemia major. Journal of Clinical Endocrinology and Metabolism, 48, 901–905.

    Article  CAS  PubMed  Google Scholar 

  • Krausz, C., & Degl’Innocenti, S. (2006). Y chromosome and male infertility: Update, 2006. Frontiers in Bioscience, 11, 3049–3061.

    Article  CAS  PubMed  Google Scholar 

  • Krausz, C., Forti, G., & McElreavey, K. (2003). The Y chromosome and male fertility and infertility. International Journal of Andrology, 26, 70–75.

    Article  PubMed  Google Scholar 

  • Lahn, B. T., & Page, D. C. (1999). Retroposition of autosomal mRNA yielded testis-specific gene family on human Y chromosome. Nature Genetics, 21, 429–433.

    Article  CAS  PubMed  Google Scholar 

  • Le Bourhis, C., Siffroi, J. P., McElreavey, K., et al. (2000). Y chromosome microdeletions and germinal mosaicism in infertile males. Molecular Human Reproduction, 6, 688–693.

    Article  PubMed  Google Scholar 

  • Ma, K., Sharkey, A., Kirsch, S., et al. (1992). Towards the molecular localisation of the AZF locus: Mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Human Molecular Genetics, 1, 29–33.

    Article  CAS  PubMed  Google Scholar 

  • Ma, K., Inglis, J. D., Sharkey, A., et al. (1993). A Y chromosome gene family with RNA-binding protein homology: Candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell, 75, 1287–1295.

    Article  CAS  PubMed  Google Scholar 

  • Ma, K., Mallidis, C., & Bhasin, S. (2000). The role of Y chromosome deletions in male infertility [invited review]. European Journal of Endocrinology, 142, 418–430.

    Article  CAS  PubMed  Google Scholar 

  • Marchini, C., Lonigro, R., Verriello, L., et al. (2000). Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clinical Genetics, 57, 74–82.

    Article  CAS  PubMed  Google Scholar 

  • Martin, R. H. (2008). Cytogenetic determinants of male fertility. Human Reproduction Update, 14, 379–390.

    Google Scholar 

  • Osborne, E. (2007). Microarray detection of Y chromosome deletions associated with male infertility. Reproductive Biomedicine Online, 15, 673–680.

    Article  CAS  PubMed  Google Scholar 

  • Page, D. C., Silber, S., & Brown, L. G. (1999). Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Human Reproduction, 14, 1722–1726.

    Article  CAS  PubMed  Google Scholar 

  • Palermo, G. D., Schlegel, P. N., Hariprashad, J. J., et al. (1999). Fertilization and pregnancy outcome with intracytoplasmic sperm injection for azoospermic men. Human Reproduction, 14, 741–748.

    Article  CAS  PubMed  Google Scholar 

  • Patsalis, P. C., Sismani, C., Quintana-Murci, L., et al. (2002). Effects of transmission of Y chromosome AZFc deletions. Lancet, 360, 1222–1224.

    Article  CAS  PubMed  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.

    Article  PubMed  Google Scholar 

  • Peri, A., Krausz, C., Cioppi, F., et al. (1998). Cyclic adenosine 3′,5′-monophosphate-responsive element modulator gene expression in germ cells of normo- and oligoazoospermic men. Journal of Clinical Endocrinology and Metabolism, 83, 3722–3726.

    CAS  PubMed  Google Scholar 

  • Reijo, R., Lee, T. Y., Salo, P., et al. (1995). Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genetics, 10, 383–393.

    Article  CAS  PubMed  Google Scholar 

  • Schwartz, S., Depinet, T. W., Leana-Cox, J., et al. (1997). Sex chromosome markers: Characterization using fluorescence in situ hybridization and review of the literature. American Journal of Medical Genetics, 71, 1–7.

    Article  CAS  PubMed  Google Scholar 

  • Siffroi, J. P., Le Bourhis, C., Krausz, C., et al. (2000). Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Human Reproduction, 15, 2559–2562.

    Article  CAS  PubMed  Google Scholar 

  • Simoni, M., Bakker, E., & Krausz, C. (2004). EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. International Journal of Andrology, 27, 240–249.

    Article  CAS  PubMed  Google Scholar 

  • Simpson, J. L., & Lamb, D. J. (2001). Genetic effects of intracytoplasmic sperm injection. Seminars in Reproductive Medicine, 19, 239–249.

    Article  CAS  PubMed  Google Scholar 

  • Suganthi, R., Vijesh, V. V., Vandana, N., et al. (2014). Y chromosomal microdeletion screening in the workup of male infertility and its current status in India. International Journal of Fertility and Sterility, 7, 253–266.

    PubMed  PubMed Central  Google 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.

    CAS  Google Scholar 

  • Templeton, A. (2000). Infertility and the establishment of pregnancy – Overview. British Medical Bulletin, 56, 577–587.

    Article  CAS  PubMed  Google Scholar 

  • Tiepolo, L., & Zuffardi, O. (1976). Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Human Genetics, 34, 119–124.

    Article  CAS  PubMed  Google Scholar 

  • Totonchi, M., Meybodi, A. M., Boroujeni, P. B., et al. (2012). Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion. Journal of Assisted Reproduction and Genetics, 29, 847–853.

    Article  PubMed  PubMed Central  Google Scholar 

  • Vergnaud, G., Page, D. C., Simmler, M. C., et al. (1986). Deletion map of the human Y chromosome based on DNA hybridization. American Journal of Human Genetics, 38, 109–124.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Vogt, P. H., Edelmann, A., Kirsch, S., et al. (1996). Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Human Molecular Genetics, 5, 933–943.

    Article  CAS  PubMed  Google Scholar 

  • Weinbauer, G. F., Behr, R., Bergmann, M., et al. (1998). Testicular cAMP responsive element modulator (CREM) protein is expressed in round spermatids but is absent or reduced in men with round spermatid maturation arrest. Molecular Human Reproduction, 4, 9–15.

    Article  CAS  PubMed  Google Scholar 

  • Werner, W., John, B., Tuschy, U., et al. (1985). 45, X/46, X, del(Yq) sex chromosome mosaicism – Analysis of the phenotypic expression. Zentralblatt für Gynäkologie, 107, 265–279.

    CAS  PubMed  Google Scholar 

  • Yuen, R. K. C., Merkoulovitch, A., MacDonald, J. R., et al. (2014). Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis. Fertility and Sterility, 101, 1079–1085.

    Article  PubMed  Google Scholar 

  • Zheng, H.-Y., Li, Y., Shen, F.-J., et al. (2014). A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions. Journal of Assisted Reproduction and Genetics, 31, 613–620.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

  2. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2016). Del(Yq) Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_68-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_68-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation