IMR Press / JOMH / Volume 16 / Issue 3 / DOI: 10.15586/jomh.v16i3.273

Journal of Men’s Health (JOMH) is published by IMR Press from Volume 17 Issue 1 (2021). Previous articles were published by another publisher on a subscription basis, and they are hosted by IMR Press on as a courtesy and upon agreement with Dougmar Publishing Group.

Original Research

Characterization and Association of Marker Chromosomes with Male Infertility

Show Less
1 Department of Urology, Fertility Center of CHA Gangnam Medical Center CHA University, Seoul, Republic of Korea
2 Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Republic of Korea
3 Department of Urology, CHA Fertility Center, Seoul Station, CHA University, Seoul, Republic of Korea
4 Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Republic of Korea

*Author to whom correspondence should be addressed.

J. Mens. Health 2020, 16(3), 11–18;
Submitted: 8 May 2020 | Accepted: 26 June 2020 | Published: 17 July 2020

Background and objective

A small supernumerary marker chromosome (sSMC) is a rare structurally abnormal chromosome in which no part can be identified by conventional cytogenetic banding technique. There is little known about the association of marker chromosomes with male infertility. We performed a molecular cyto-genetic characterization sSMCs and investigated their association with male infertility.


Among 4230 infertile male patients who underwent cytogenetic analyses from January 2008 to December 2018, the records of 15 patients who were diagnosed with sSMCs were reviewed. After ini-tial infertility evaluation, the patients received additional genetic tests including G-bands by trypsin using Giemsa (GTG-banding), Nucleolar organizer region (NOR) banding, Fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH) analyses to further char-acterize and identify the origin of their marker chromosome. Testis biopsy was performed for the azoospermic patients to evaluate spermatogenic status.


Among 15 infertile males with sSMCs, eight had nonobstructive azoospermia, five had severe oligozo-ospermia, and two had sperm concentrations above the lower normal limit. The marker chromosomes were identified as Y ring chromosomes (n = 8), an isodicentric Y chromosome (n = 1), a neocen-tromere Y chromosome (n = 1), a derivative chromosome 1 (n = 1), and an acrocentric short arms (n = 4). 


Marker chromosomes appear to be a rare genetic cause of male infertility. Additional cytogenetic tests, including NOR banding, FISH, and aCGH, could help to characterize the origin of the marker chromosome. Appropriate genetic counseling for couples with infertility caused by a marker chromo-some should be recommended. 

Male infertility
Marker chromosome
Cytogenetic analyses
Genetic counseling
Back to top