Journal of Assisted Reproduction and Genetics

, Volume 35, Issue 8, pp 1503–1508 | Cite as

An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization

  • Mona K. MekkawyEmail author
  • Ahmed M. El Guindi
  • Inas M. Mazen
  • Alaaeldin G. Fayez
  • Amal M. Mohamed
  • Alaa K. Kamel


45,X testicular disorder of sex development (DSD) is a very rare disorder. It usually results from Y/ autosomal translocations or insertion [1, 2, 3]. The frequency of Y/ autosome translocations in the general population is generally low occurring in about 1 in 2000 [4].

Y/ autosome (Y;A) translocations are usually balanced and segregate in families with minimal effects on the phenotype [4, 5, 6]. On the other hand, unbalanced Y;A reciprocal translocations commonly present with infertility and azoospermia [7, 8, 9]. Some patients may present with other presentations related to abnormal sex chromosme dosage as ambiguous genitalia, short stature, and some of the Turner syndrome features. Others may have congenital malformations, and mental subnormality depending on the genes involved in the autosome [2, 3, 10, 11]. Almost all autosomes had been reported, but acrocentrics are the most commonly involved [2, 12, 13, 14, 15, 16].

The causative factor of male infertility and...


Funding information

This work was funded by the in-house projects program, National Research Centre, grant no. 10010604.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Mona K. Mekkawy
    • 1
    Email author
  • Ahmed M. El Guindi
    • 2
  • Inas M. Mazen
    • 3
  • Alaaeldin G. Fayez
    • 4
  • Amal M. Mohamed
    • 1
  • Alaa K. Kamel
    • 1
  1. 1.Human Cytogenetics DepartmentNational Research CentreCairoEgypt
  2. 2.Department of Andrology, Kasr Al Ainy Faculty of MedicineCairo UniversityCairoEgypt
  3. 3.Clinical Genetics DepartmentNational Research CentreCairoEgypt
  4. 4.Molecular Genetics and Enzymology DepartmentNational Research CentreCairoEgypt

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