Skip to main content
SpringerLink
Log in

Constitutional complex chromosomal rearrangements in a klinefelter patient: case report and review of literature

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Backgrounds

While XXY aneuploidy is the most common disorder of sex chromosomes in men, complex chromosomal rearrangements (CCRs) are rare in humans.

Case description

Here we describe clinical and cytogenetic findings in a male referred to our cytogenetic laboratory by an infertility clinic. The patient’s age was 35 at the time of referral. Total azoospermia was confirmed on semen analysis.

Results

The karyotype of peripheral blood showed 47,XXY,t(1;3;5)(p22;q29;q22). The mother had the same CCRs.

Discussion

To our best of our knowledge this is the first case of 47,XXY with CCRs. We think it is important to report such a unique chromosomal occurrence.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Giardino D, Corti C, Ballarati L, Colombo D, Sala E, Villa N, et al. De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn. 2009;29:257–65.

    Article  PubMed  Google Scholar 

  2. Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet. 1988;29:247–61.

    Article  PubMed  CAS  Google Scholar 

  3. Batanian JR, Eswara MS. De novo apparently balanced complex chromosomes rearrangement (CCR) involving chromosome 4, 18, and 21 in a girl with mental retardation: report and review. Am J Med Genet. 1998;78:44–51.

    Article  PubMed  CAS  Google Scholar 

  4. Batista DA, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet. 1994;53(3):255–63.

    Article  PubMed  CAS  Google Scholar 

  5. Gruchy N, Barreau M, Kessler K, Gourdier D, Leporrier N. A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations ITs) through three generations. Am J Med Genet. 2009;152:185–90.

    Google Scholar 

  6. Patsalis PC. Complex chromosomal rearrangements. Genet Couns. 2007;18(1):57–69.

    PubMed  CAS  Google Scholar 

  7. Kousseff BG, Nichols P, Essig YP, Miller K, Weiss A, Tedesco TA. Complex chromosome rearrangements and congenital anomalies. Am J Med Genet. 1987;26:771–82.

    Article  PubMed  CAS  Google Scholar 

  8. Kausch K, Haaf T, Kohler J, Schmid M. Complex chromosomal rearrangement in a woman with multiple miscarriages. Am J Med Genet. 1988;31:415–20.

    Article  PubMed  CAS  Google Scholar 

  9. Zahed L, Der Kaloustian V, Batanian JR. Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products. Am J Med Genet. 1998;79:30–4.

    Article  PubMed  CAS  Google Scholar 

  10. Houge G, Liehr T, Schoumaps J, Ness GO, Solland K, Starke H, et al. Ten years follow up of a boy with a complex chromosomal rearrangement: going from a >5 to 15-breakpoint CCR. Am J Med Genet. 2003;118:235–40.

    Article  Google Scholar 

  11. Juchniuk de Vozzi MS, Santos SA, Pereira CS, Cuzzi JF, Laureano LAF, Franco Jr JG, et al. Meiotic segregaion and inerchromosomal effect in the sperm of a double translocation carrier: a case report. Molec Cytogenet. 2009;2:24–9.

    Article  Google Scholar 

  12. Abramsky L, Chapple J. 47, XXY (Klinefelter syndrome) and 47, XYY: estimated rates of and indication for post-natal diagnosis with implications for prenatal counselling. Prenat Diagn. 1997;17:363–8.

    Article  PubMed  CAS  Google Scholar 

  13. Gosden CM, Davidson C, Robertson M. Lymphocyte culture. In: Rooney DE, Czepulkowski BH, editors. Human cytogenetics: a practical approach. Vol I. Constitutional analysis. Oxford: IRL. Press Ltd; 1992. p. 31–54.

    Google Scholar 

  14. Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH, editors. Human cytogenetics: a practical approach. Vol I. Constitutional analysis. Oxford: IRL Press Ltd; 1992. p. 91–118.

    Google Scholar 

  15. Shaffer LG, Tommerup N. An International System for Human Cytogenetic Nomenclature (ISCN). Basel: S. Karger; 2005.

    Google Scholar 

  16. Bartels I, Starke H, Argyriou L, Sauter SM, Zoll B, Liehr T. An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype. Eur J Med Genet. 2007;50(2):133–8.

    Article  PubMed  Google Scholar 

  17. García JL, Hernández JM, González M, San Miguel JF, Dal Cin P, Van Den Berghe H. Translocation (15;17) (q22;q21) in a patient with Klinefelter syndrome. Cancer Genet Cytogenet. 1996;86(1):86.

    Article  PubMed  Google Scholar 

  18. Vasu V, Chandra N, Jayashankar M, Santhiya ST. Klinefelter variant mosaic with a reciprocal translocation t(1;7). Fertil Steril. 2008;90(5):2017.e15–2017.e17.

    Article  Google Scholar 

  19. Gül D, Sayli BS. Klinefelter syndrome associated with 13/14 translocation abnormality 46, XXY, t(13q;14q). Urol Int. 1994;52(3):166–8.

    Article  PubMed  Google Scholar 

  20. Sparagana M, Smith GP. Klinefelter’s syndrome associated with a D/D translocation. J Med Genet. 1975;12(3):299–301.

    Article  PubMed  CAS  Google Scholar 

  21. Waldenmaier C, Hirsch W, König E, Shibata K. Identification of a 18–21 translocation with Klinefelter's syndrome by G-band patterns. Humangenetik. 1974;21(4):323–9.

    PubMed  CAS  Google Scholar 

  22. Dumars KW, Reed P, Lawce HJ. X-autosome translocation with a 47, XXXY qs, t(9p-;Xq+) karyotype. Birth Defects Orig Artic Ser. 1975;11(5):247–53.

    PubMed  CAS  Google Scholar 

  23. Lee Iw, Su MT, Hsu CC, YH L, Chen Py, Kuo PL. Constitutional complex chromosomal rearrangements in azoospermic men--case report and literature review. Urology. 2006;68(6):1343.e5–1343.e8.

    Article  Google Scholar 

  24. Cai T, Yu P, Talge D, Lu D, Chen Y, Xia J. A de novo complex chromosomal rearrangement with a translocation 7;7 and 8q insertion in a male carrier with no infertility. Hum Repr. 2001;1:59–62.

    Article  Google Scholar 

  25. Vanneste E, Voet T, Melotte C, Debrock S, Sermon K, Staessen C, et al. What next for preimplantation geneic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate. Hum Reprod. 2009;11:2679–82.

    Article  Google Scholar 

  26. Joly-Helas G, de La Rochebrochard C, Mousset-Siméon N, Moirot H, Tiercin C, Romana SP, et al. Complex chromosomal rearrangement and intracytoplasmic sperm injection: A Case Report. Hum Reprod. 2007;22(5):1292–7.

    Article  PubMed  CAS  Google Scholar 

  27. Lim CK, Cho JW, Kim JY, Kang IS, Shim SH, Jun JH. A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements. Fertil Steril. 2008;90(5):1680–4.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Cytogenetic Department, Iranian Blood Transfusion Organization Research Centre, (IBTO), Tehran, Iran

    F. Mahjoubi & F. Razazian

  2. Department of Medical Biotechnology, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran

    F. Mahjoubi

  3. The Blood Transfusion Organization Research Center (IBTO), Hemmat Exp. Way, Next to Milad Tower, Tehran, P.O Box: 14665–1157, Iran

    F. Mahjoubi

Authors
  1. F. Mahjoubi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. F. Razazian
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to F. Mahjoubi.

Additional information

Capsule

The concurrence of complex chromosomal rearrangements (CCRs) with sex chromosome aneuploidy has not been reported before. This is the first report of CCRs with an extra chromosome X in an infertile male.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mahjoubi, F., Razazian, F. Constitutional complex chromosomal rearrangements in a klinefelter patient: case report and review of literature. J Assist Reprod Genet 29, 437–441 (2012). https://doi.org/10.1007/s10815-012-9725-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-012-9725-y

Keyword

Search

Navigation