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Original Research

Open Access

Characterization and Association of Marker Chromosomes with Male Infertility

  • Dong Suk Kim1
  • Sang Hee Park2
  • Sung Han Shim2
  • Dae Keun Kim3
  • Sang Woo Lyu4
  • Ji Won Kim4
  • Woo Sik Lee4
  • Seung-Hun Song1

1Department of Urology, Fertility Center of CHA Gangnam Medical Center CHA University, Seoul, Republic of Korea

2Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Republic of Korea

3Department of Urology, CHA Fertility Center, Seoul Station, CHA University, Seoul, Republic of Korea

4Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Republic of Korea

DOI: 10.15586/jomh.v16i3.273 Vol.16,Issue 3,July 2020 pp.11-18

Published: 16 July 2020

*Corresponding Author(s): Seung-Hun Song E-mail:


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; Azoopermia; Cytogenetic analyses; Genetic counseling

Cite and Share

Dong Suk Kim,Sang Hee Park,Sung Han Shim,Dae Keun Kim,Sang Woo Lyu,Ji Won Kim,Woo Sik Lee,Seung-Hun Song. Characterization and Association of Marker Chromosomes with Male Infertility. Journal of Men's Health. 2020. 16(3);11-18.


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