{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:14:37Z","timestamp":1790766877496,"version":"4.1.0"},"reference-count":44,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Chromosome abnormalities play a crucial role in reproductive failure. The presence of numerical or structural aberrations may induce recurrent pregnancy loss or primary infertility. The main purpose of our study was to determine the types and frequency of chromosomal aberrations in infertile patients and to compare the frequency of structural aberrations to a control group. Karyotyping was performed in 1489 men and 780 women diagnosed with reproductive failure between 2010 and 2020. The control group included 869 male and 1160 female patients having cytogenetic evaluations for reasons other than infertility. Sex chromosomal aberrations were detected in 33\/1489 (2.22%) infertile men and 3\/780 (0.38%) infertile women. Structural abnormalities (e.g., translocation, inversion) were observed in 89\/1489 (5.98%) infertile men and 58\/780 (7.44%) infertile women. The control population showed structural chromosomal abnormalities in 27\/869 (3.11%) men and 39\/1160 (3.36%) women. There were significant differences in the prevalence of single-cell translocations between infertile individuals (males: 3.5%; females: 3.46%) and control patients (males: 0.46%; females: 0.7%). In summary, this is the first report of cytogenetic alterations in infertile patients in Hungary. The types of chromosomal abnormalities were comparable to previously published data. The prevalence of less-studied single-cell translocations was significantly higher in infertile patients than in the control population, supporting an earlier suggestion that these aberrations may be causally related to infertility.<\/jats:p>","DOI":"10.3390\/genes13112086","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T19:17:34Z","timestamp":1668107854000},"page":"2086","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study"],"prefix":"10.3390","volume":"13","author":[{"given":"Szilvia","family":"And\u00f3","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Koczok","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Be\u00e1ta","family":"Bessenyei","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3397-2829","authenticated-orcid":false,"given":"Istv\u00e1n","family":"Balogh","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"},{"name":"Department of Human Genetics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9178-5282","authenticated-orcid":false,"given":"Anik\u00f3","family":"Ujfalusi","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1477-7827-8-21","article-title":"Management of the infertile couple: An evidence-based protocol","volume":"8","author":"Kamel","year":"2010","journal-title":"Reprod. Biol. Endocrinol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.eururo.2005.06.002","article-title":"EAU guidelines on male infertility","volume":"48","author":"Dohle","year":"2005","journal-title":"Eur. Urol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1530\/rep.0.1260013","article-title":"The genetic basis of infertility","volume":"126","author":"Shah","year":"2003","journal-title":"Reproduction"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1001\/jama.2021.4788","article-title":"Diagnosis and Management of Infertility","volume":"326","author":"Carson","year":"2021","journal-title":"JAMA"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Serapinas, D., Valantinavi\u010dien\u0117, E., Machtejevien\u0117, E., Bartkevi\u010di\u016bt\u0117, A., and Bartkevi\u010dien\u0117, D. (2021). Evaluation of Chromosomal Structural Anomalies in Fertility Disorders. Medicina, 57.","DOI":"10.3390\/medicina57010037"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/sj.ejhg.5200805","article-title":"Guidelines for the appropriate use of genetic tests in infertile couples","volume":"10","author":"Foresta","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s40618-016-0541-6","article-title":"Klinefelter syndrome (KS): Genetics, clinical phenotype and hypogonadism","volume":"40","author":"Bonomi","year":"2017","journal-title":"J. Endocrinol. Investig."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/j.fertnstert.2022.01.011","article-title":"Chromosomal abnormalities of 19,000 couples with recurrent spontaneous abortions: A multicenter study","volume":"117","author":"Park","year":"2022","journal-title":"Fertil. Steril."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/S1472-6483(10)60677-3","article-title":"Male infertility: Role of genetic background","volume":"14","author":"Ferlin","year":"2007","journal-title":"Reprod. Biomed. Online"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"26","DOI":"10.4103\/0971-6866.32031","article-title":"Impact of pericentric inversion of Chromosome 9 [inv (9) (p11q12)] on infertility","volume":"13","author":"Mozdarani","year":"2007","journal-title":"Indian J. Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1007\/s10815-018-1373-4","article-title":"Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: A 21-year retrospective study, a report of a novel insertion, and a literature review","volume":"36","author":"Elkarhat","year":"2019","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.rbmo.2014.04.021","article-title":"Heterochromatin variants in human karyotypes: A possible association with reproductive failure","volume":"29","author":"Panczak","year":"2014","journal-title":"Reprod. Biomed. Online"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"140","DOI":"10.14712\/fb2015061040140","article-title":"Pericentric Inversion of Human Chromosome 9 Epidemiology Study in Czech Males and Females","volume":"61","author":"Panczak","year":"2015","journal-title":"Folia Biol."},{"key":"ref_14","first-page":"25","article-title":"Association of Pericentric Inversion of Chromosome 9 and Infertility in Romanian Population","volume":"7","author":"Dana","year":"2012","journal-title":"Maedica"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2557","DOI":"10.1007\/s10815-019-01601-y","article-title":"Pericentric inversion (Inv) 9 variant-reproductive risk factor or benign finding?","volume":"36","author":"Merrion","year":"2019","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_16","first-page":"271","article-title":"Single Cell Abnormality in Couples with Bad Obstetric History and Repeated Fetal Loss: Occurrence and Clinical Outcome","volume":"11","author":"Sheth","year":"2011","journal-title":"Int. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/BF00273833","article-title":"Single cell translocations in couples with multiple spontaneous abortions","volume":"75","author":"Higgins","year":"1987","journal-title":"Hum. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1159\/000292599","article-title":"Chromosome breakage in individuals with single-cell structural aberrations and habitual abortions","volume":"36","author":"Velissariou","year":"1993","journal-title":"Gynecol. Obstet. Investig."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1093\/humrep\/14.9.2257","article-title":"Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection","volume":"14","author":"Peschka","year":"1999","journal-title":"Hum. Reprod."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/S0301-2115(99)00137-2","article-title":"Significance of chromosomal aberrations for the unsuccessful procedures of assisted reproduction","volume":"88","author":"Tarlatzis","year":"2000","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"105","DOI":"10.4103\/0971-6866.16811","article-title":"Isolated cell translocations: Are they significant?","volume":"11","author":"Devi","year":"2015","journal-title":"Indian J. Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41431-018-0244-x","article-title":"European guidelines for constitutional cytogenomic analysis","volume":"27","author":"Silva","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_23","first-page":"94","article-title":"Exclusion of chromosomal mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use","volume":"29","author":"Hook","year":"1977","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1046\/j.1442-2042.2001.00242.x","article-title":"Chromosomal variants among 1790 infertile men","volume":"8","author":"Nakamura","year":"2001","journal-title":"Int. J. Urol."},{"key":"ref_25","first-page":"269","article-title":"Chromosomal Abnormalities in Couples with Primary and Secondary Infertility: Genetic Counseling for Assisted Reproductive Techniques (ART)","volume":"21","author":"Poornima","year":"2020","journal-title":"J. Reprod. Infertil."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.rbmo.2012.04.004","article-title":"Chromosomal aberrations in 2000 couples of Indian ethnicity with reproductive failure","volume":"25","author":"Saxena","year":"2012","journal-title":"Reprod. Biomed. Online"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"396","DOI":"10.5455\/medarh.2017.71.396-399","article-title":"Cytogenetic Abnormalities Found in Patients with Reproductive Problems","volume":"71","author":"Hasic","year":"2017","journal-title":"Med. Arch."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"247","DOI":"10.4103\/jhrs.JHRS_124_17","article-title":"Chromosomal Aberrations in Couples with Pregnancy Loss: A Retrospective Study","volume":"11","author":"Pal","year":"2018","journal-title":"J. Hum. Reprod. Sci."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1093\/humrep\/16.1.82","article-title":"Chromosomal factors of infertility in candidate couples for ICSI: An equal risk of constitutional aberrations in women and men","volume":"16","author":"Gekas","year":"2001","journal-title":"Hum. Reprod."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.21873\/invivo.11925","article-title":"Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF","volume":"34","author":"Zachaki","year":"2020","journal-title":"In Vivo"},{"key":"ref_31","first-page":"9","article-title":"Low grade mosaicism for X aneuploidy in women referred for recurrent abortions","volume":"35","author":"Madan","year":"2015","journal-title":"Eur. Cytogenet. Assoc. Newsl."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13039-019-0456-y","article-title":"Molecular cytogenetic analysis and genetic counseling: A case report of eight 46,XX males and a literature review","volume":"12","author":"Yue","year":"2019","journal-title":"Mol. Cytogenet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/gm132","article-title":"Inversion variants in the human genome: Role in disease and genome architecture","volume":"2","author":"Feuk","year":"2010","journal-title":"Genome Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1093\/humrep\/del317","article-title":"Meiotic segregation analysis in spermatozoa of pericentric inversion carriers using fluorescence in-situ hybridization","volume":"22","author":"Morel","year":"2007","journal-title":"Hum. Reprod."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"544","DOI":"10.4103\/aja.aja_130_19","article-title":"Chromosome heteromorphisms: Do they entail a reproductive risk for male carriers?","volume":"22","author":"Anton","year":"2020","journal-title":"Asian J. Androl."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.3389\/fgene.2019.01165","article-title":"Recombinant Chromosomes Resulting From Parental Pericentric Inversions-Two New Cases and a Review of the Literature","volume":"10","author":"Liehr","year":"2019","journal-title":"Front. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s10815-018-1376-1","article-title":"Infertility patients with chromosome inversions are not susceptible to an inter-chromosomal effect","volume":"36","author":"Young","year":"2019","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"385","DOI":"10.2174\/1566524021666210806161128","article-title":"Chromosome 9 Inversion: Pathogenic or Benign? A Comprehensive Systematic Review of all Clinical Reports","volume":"22","author":"Talebi","year":"2022","journal-title":"Curr. Mol. Med."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"103639","DOI":"10.1016\/j.ejmg.2019.03.003","article-title":"Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism","volume":"63","author":"Garzo","year":"2020","journal-title":"Eur. J. Med. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1126","DOI":"10.1016\/j.dnarep.2006.05.010","article-title":"Common fragile sites as targets for chromosome rearrangements","volume":"5","author":"Arlt","year":"2006","journal-title":"DNA Repair"},{"key":"ref_41","first-page":"855","article-title":"Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints","volume":"19","author":"Manvelyan","year":"2007","journal-title":"Int. J. Mol. Med."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1601-5223.1978.tb00981.x","article-title":"A recurrent structural aberration, t(7;14), in phytohemagglutinin-stimulated lymphocytes","volume":"89","author":"Zech","year":"1978","journal-title":"Hereditas"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/BF00286591","article-title":"Non-random in vitro 7;14 translocations detected in a routine cytogenetic series. 12 examples and their possible significance","volume":"66","author":"Wallace","year":"1984","journal-title":"Hum. Genet."},{"key":"ref_44","first-page":"520","article-title":"T-lymphocytes with 7;14 translocations: Frequency of occurrence, breakpoints, and clinical and biological significance","volume":"38","author":"Dewald","year":"1986","journal-title":"Am. J. Hum. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/11\/2086\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:14:01Z","timestamp":1760145241000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/11\/2086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,10]]},"references-count":44,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["genes13112086"],"URL":"https:\/\/doi.org\/10.3390\/genes13112086","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,10]]}}}