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Chromosomal Translocations and Inversion in Male Infertility

  • Kareim Khalafalla
  • Pallav Sengupta
  • Mohamed Arafa
  • Ahmad Majzoub
  • Haitham Elbardisi
Chapter
  • 67 Downloads

Abstract

Chromosomal abnormalities are major contributors of idiopathic male infertility. Anomalies or mutations of the chromosomal DNA lead to different forms of chromosomal abnormalities. An array of functional gene expressions determines normal testicular development and robust spermatogenesis. In case of any anomalies in these genes, testicular dysgenesis as well as spermatogenic arrest may occur leading to a comprised state of male fertility. The present chapter will review two of the most sophisticated structural chromosomal abnormalities, translocation and inversion. Chromosomal translocation refers to the transfer of chromosomal part to another chromosome, while genetic inversion takes place when a chromosomal part breaks off, rotates 180 degrees, and reattaches to the same chromosome. Moreover, the chapter aims to present the underlying mechanisms by which chromosomal translocations and inversions pave the way to male infertility, clinical presentations of related conditions, and management approach in cases of chromosomal abnormalities-induced male infertility.

Keywords

Chromosomal aberrations Inversions Male infertility Translocations 

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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Kareim Khalafalla
    • 1
  • Pallav Sengupta
    • 2
  • Mohamed Arafa
    • 3
  • Ahmad Majzoub
    • 3
  • Haitham Elbardisi
    • 3
  1. 1.Department of UrologyHamad General HospitalDohaQatar
  2. 2.Department of Physiology, Faculty of Medicine, Bioscience and NursingMAHSA UniversityJenjarom, SelangorMalaysia
  3. 3.Department of UrologyHamad Medical CorporationDohaQatar

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