Characterization and Association of Marker Chromosomes with Male Infertility
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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MRE Press
2020-07-01
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| Series: | Journal of Men's Health |
| Subjects: | |
| Online Access: | https://jomh.org/index.php/JMH/article/view/273 |
| _version_ | 1827359710822531072 |
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| author | Dong Suk Kim Sang Hee Park Sung Han Shim Dae Keun Kim Sang Woo Lyu Ji Won Kim Woo Sik Lee Seung-Hun Song |
| author_facet | Dong Suk Kim Sang Hee Park Sung Han Shim Dae Keun Kim Sang Woo Lyu Ji Won Kim Woo Sik Lee Seung-Hun Song |
| author_sort | Dong Suk Kim |
| collection | DOAJ |
| description | 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.
Methods
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.
Results
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).
Conclusion
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. |
| first_indexed | 2024-03-08T06:34:00Z |
| format | Article |
| id | doaj.art-16884d91f29b455899b404aecacac9c4 |
| institution | Directory Open Access Journal |
| issn | 1875-6859 |
| language | English |
| last_indexed | 2024-03-08T06:34:00Z |
| publishDate | 2020-07-01 |
| publisher | MRE Press |
| record_format | Article |
| series | Journal of Men's Health |
| spelling | doaj.art-16884d91f29b455899b404aecacac9c42024-02-03T10:53:16ZengMRE PressJournal of Men's Health1875-68592020-07-0116310.15586/jomh.v16i3.273Characterization and Association of Marker Chromosomes with Male InfertilityDong Suk Kim0Sang Hee Park1Sung Han Shim2Dae Keun Kim3Sang Woo Lyu4Ji Won Kim5Woo Sik Lee6Seung-Hun Song7Fertility Center of CHA Gangnam Medical Center CHA UniversityGenetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA UniversityFertility Center of CHA Gangnam Medical Center, CHA UniversityCHA Fertility Center, Seoul Station, CHA UniversityDepartment of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA UniversityFertility Center of CHA Gangnam Medical Center, CHA UniversityFertility Center of CHA Gangnam Medical Center, CHA UniversityFertility Center of CHA Gangnam Medical Center CHA UniversityBackground 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. Methods 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. Results 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). Conclusion 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.https://jomh.org/index.php/JMH/article/view/273Male infertility; Marker chromosome; Azoopermia |
| spellingShingle | 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 Male infertility; Marker chromosome; Azoopermia |
| title | Characterization and Association of Marker Chromosomes with Male Infertility |
| title_full | Characterization and Association of Marker Chromosomes with Male Infertility |
| title_fullStr | Characterization and Association of Marker Chromosomes with Male Infertility |
| title_full_unstemmed | Characterization and Association of Marker Chromosomes with Male Infertility |
| title_short | Characterization and Association of Marker Chromosomes with Male Infertility |
| title_sort | characterization and association of marker chromosomes with male infertility |
| topic | Male infertility; Marker chromosome; Azoopermia |
| url | https://jomh.org/index.php/JMH/article/view/273 |
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