ISSN 2149-3235 | E-ISSN 2149-3057
Case Report
Male infertility associated with de novo pericentric inversion of chromosome 1
1 Department of Medical Genetics, Dr. Faruk Sükan Maternity and Pediatric Hospital, Konya, Turkey  
2 Department of Medical Genetics, Necmettin Erbakan University, Meram School of Medicine, Konya, Turkey  
3 Department of Urology, Necmettin Erbakan University, Meram School of Medicine, Konya, Turkey  
4 Department of Medical Genetics, Selçuk University School of Medicine, Konya, Turkey  
Turk J Urol 2017; 43: 560-562
DOI: 10.5152/tud.2017.79346
Key Words: Azoospermia; chromosome 1; male infertility; pericentric inversion
Abstract

Inversion occurs after two breaks in a chromosome have happened and the segment rotates 180° before reinserting. Inversion carriers have produced abnormal gametes if there is an odd number crossing- over between the inverted and the normal homologous chromosomes causing a duplication or deletion. Reproductive risks such as infertility, abortion, stillbirth and birth of malformed child would be expected in that case. A 54-year- old male patient was consulted to our clinic for primary infertility. The routine chromosome study were applied using peripheral blood lymphocyte cultures and analyzed by giemsa-trypsin-giemsa (GTG) banding, and centromer banding (C-banding) stains. Y chromosome microdeletions in the azoospermia factor (AZF) regions were analyzed with polymerase chain reaction. Additional test such as fluorescence in situ hybridization (FISH) was used to detect the sex-determining region of the Y chromosome (SRY). Semen analysis showed azoospermia. A large pericentric inversion of chromosome 1 46,XY, inv(1) (p22q32) was found in routine chromosome analysis. No microdeletions were seen in AZF regions. In our patient the presence of SRY region was observed by using FISH technique with SRY-specific probe. Men who have pericentric inversion of chromosome 1, appear to be at risk for infertility brought about by spermatogenic breakdown. The etiopathogenic relationship between azoospermia and pericentric inversion of chromosome 1 is discussed.

 

 

Cite this article as: Balasar Ö, Zamani AG, Balasar M, Acar H. Male infertility associated with de novo pericentric inversion of chromosome 1. Turk J Urol 2017; 43(4): 560-2.

Key Words
Authors
All
Survey
AVES | Copyright © 2018 Turkish Association of Urology | Latest Update: 08.10.2018