Journal of Assisted Reproduction and Genetics

, Volume 30, Issue 12, pp 1559–1562 | Cite as

A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus

  • Long-Ching Kuan
  • Mei-Tsz Su
  • Ming Chen
  • Pao-Lin Kuo
  • Tsung-Cheng KuoEmail author


The dicentric Y chromosomes are the most commonly found in the structural aberration of Y chromosome. If the dicentric chromosome has completely symmetric arms, it is considered an isodicentric chromosome. The sites of breakage and fusion at Yp and Yq are variable, but breakage and fusion at the pseudo-autosomal region has never been reported. Herein we reported identification de novo isodicentric (Yq12) in a fetus. The fusion occurred at Yq pseudo-autosomal region very close the telomere and resulted in duplication of Y chromosome. The baby was grossly normal at birth. In conclusion, isodicentric Y chromosome could result from breakage and fusion at the Yq pseudo-autosomal region.


Y chromosome Isodicentric chromosome Pseudo-autosomal region 


  1. 1.
    Codina-Pascual M, Oliver-Bonet M, Navarro J, Starke H, Liehr T, Gutiérrez-Mateo C, et al. FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male. Am J Med Genet. 2004;127A:302–6.PubMedCrossRefGoogle Scholar
  2. 2.
    Hsu LYF. Phenotype/ karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994;53:108–40.PubMedCrossRefGoogle Scholar
  3. 3.
    Yoshida A, Nakahori Y, Kuroki Y, Motoyama M, Araki Y, Miura K, et al. Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod. 1997;3:709–12.PubMedCrossRefGoogle Scholar
  4. 4.
    Robinson DO, Dalton P, Jacobs PA, Mosse K, Power MM, Skuse DH, et al. A molecular and FISH analysis of structurally abnormal Y chromosome in patients with Turner syndrome. J Med Genet. 1999;36:279–84.PubMedGoogle Scholar
  5. 5.
    Tuck-Muller CM, Chen H, Martínez JE, Shen CC, Li S, Kusyk C, et al. Isodicentric Y chromosome: cytogenetic, molecular, and clinical studies and review of the literature. Hum Genet. 1995;96:119–29.PubMedCrossRefGoogle Scholar
  6. 6.
    Kuo PL, Wu RC, Lin SJ, Tzeng CC, Liu HS, Huang KE. Detection of Y-chromosome sequences in patients with X-chromosome abnormalities. J Formos Med Assoc. 1995;94:529–34.PubMedGoogle Scholar
  7. 7.
    Lin YM, Lin YH, Teng YN, Hsu CC, Lin JSN, Kuo PL. Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure. Fertil Steril. 2002;77:897–903.PubMedCrossRefGoogle Scholar
  8. 8.
    DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet. 2006;70:145–50.PubMedCrossRefGoogle Scholar
  9. 9.
    Lange J, Skaletsky H, van Daalen SKM, Embry SL, Korver CM, Brown LG, et al. Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell. 2009;138:855–69.PubMedCrossRefGoogle Scholar
  10. 10.
    Sarbajna S, Denniff M, Jeffreys AJ, Neumann R, Artigas MS, Veselis A, et al. A major recombination hotspot in the XqYq pseudoautosomal region gives new insight into processing of human gene conversion events. Hum Mol Genet. 2012;21:2029–38.PubMedCrossRefGoogle Scholar
  11. 11.
    Lalatta F, Folliero E, Cavallari U, Segni MD, Gentilin B, Fogliani R, et al. Early manifestations in a cohort of children prenatally diagnosed with 47. XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr. 2012;38:52.PubMedCrossRefGoogle Scholar
  12. 12.
    Lemyre E, der Kaloustian VM, Duncan AM. Stable non-Robertsonian dicentric chromosomes: four new cases and a review. J Med Genet. 2001;38:76–9.PubMedCrossRefGoogle Scholar
  13. 13.
    Heinritz W, Kotzot D, Heinze S, Kujat A, Kleemann WJ, Froster UG. Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome. Am J Med Genet A. 2005;132A:198–201.PubMedCrossRefGoogle Scholar
  14. 14.
    Robinson A, Linden MG, Bender BG. Prenatal diagnosis of sex chromosome abnormalities. In: Milunsky A, editor. Genetic disorders and the fetus: diagnosis, prevention and treatment. 4th ed. Baltimore and London: Johns Hopkins University Press; 1998. p. 249–85.Google Scholar
  15. 15.
    Bruyère H, Speevak MD, Winsor EJT, de Fréminville B, Farrell SA, McGowan-Jordan J, et al. Isodicentric Yp: prenatal diagnosis and outcome in 12 cases. Prenat Diagn. 2006;26:324–9.PubMedCrossRefGoogle Scholar
  16. 16.
    Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, et al. 47, XYY Syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013;163:1085–94.PubMedCrossRefGoogle Scholar
  17. 17.
    Higgins CD, Swerdlow AJ, Schoemaker MJ, Wright AF, Jacobs PA. UK clinical cytogenetics group. Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study. Hum Genet. 2007;121:691–6.PubMedCrossRefGoogle Scholar
  18. 18.
    Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, et al. Behavioral and social phenotypes in boys with 47, XYY syndrome or 47. XXY Klinefelter Syndr Pediatr. 2012;129:769–78.Google Scholar
  19. 19.
    Kauppi L, Barchi M, Baudat F, Romanienko PJ, Keeney S, Jasin M. Distinct properties of the XY pseudoautosomal region crucial for male meiosis. Science. 2011;331:916–20.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Long-Ching Kuan
    • 1
  • Mei-Tsz Su
    • 2
  • Ming Chen
    • 3
  • Pao-Lin Kuo
    • 2
  • Tsung-Cheng Kuo
    • 1
    Email author
  1. 1.Department of Obstetrics and GynecologyKuo General HospitalTainan CityTaiwan
  2. 2.Department of Obstetrics and GynecologyNational Cheng Kung University Hospital and College of MedicineTainanTaiwan
  3. 3.Department of Obstetrics and GynecologyChanghua Christian HospitalChanghuaTaiwan

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