{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T04:19:32Z","timestamp":1711426772601},"reference-count":30,"publisher":"Akademiai Kiado Zrt.","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orvosi Hetilap"],"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:p>Introduction: In developed countries 10-15% of the couples are affected by infertility. In half of them genetic factors can be identified. Aims: We studied genetic alterations in infertility in Hungarian patients. Methods: Cyogenetic analyses were performed in 195 females and 305 males. In 17 females FMR1 mutations, in 150 males Y microdeletions, and aneuploidy were studied in the sperm of 28 males. In a carrier male sperm meiotic segregation was studied. Results: The most common aberrations in females were X chromosome aneuploidia and inversion (3.6%), while the same in males Klinefelter-syndrome (3.3%) and autosomal translocations (2%). In two females FMR1 premutation was found. While Y microdeletions were identified only in azoospermic and severe oligozoospermic men, partial microdeletions could also be detected in normozoospermic males. A higher aberration rate was found in cases with abnormality in both the number and motility of sperm. In a male patient with 46,XY,t(3;6)(q21;q23) karyotype, 53.2% of spem carried unbalanced chromosome assortment. Conclusions: Knowledge of abnormalities may help in genetic counseling and choosing the most effective reproduction technique. Orv. Hetil., 2013, 154, 52\u201361.<\/jats:p>","DOI":"10.1556\/oh.2013.29510","type":"journal-article","created":{"date-parts":[[2013,1,7]],"date-time":"2013-01-07T02:00:32Z","timestamp":1357524032000},"page":"52-61","source":"Crossref","is-referenced-by-count":2,"title":["Citogenetic and molecular genetic studies in infertility in East Hungary"],"prefix":"10.1556","volume":"154","author":[{"given":"Attila","family":"Mok\u00e1nszki","sequence":"first","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Gyermekgy\u00f3gy\u00e1szati Int\u00e9zet, Klinikai Genetikai K\u00f6zpont Debrecen Nagyerdei krt. 98. 4032"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anik\u00f3","family":"Ujfalusi","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Gyermekgy\u00f3gy\u00e1szati Int\u00e9zet, Klinikai Genetikai K\u00f6zpont Debrecen Nagyerdei krt. 98. 4032"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erzs\u00e9bet","family":"Balogh","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Gyermekgy\u00f3gy\u00e1szati Int\u00e9zet, Klinikai Genetikai K\u00f6zpont Debrecen Nagyerdei krt. 98. 4032"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsuzsanna","family":"Moln\u00e1r","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Sz\u00fcl\u00e9szeti \u00e9s N\u0151gy\u00f3gy\u00e1szati Klinika Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tam\u00e1s","family":"S\u00e1py","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Sz\u00fcl\u00e9szeti \u00e9s N\u0151gy\u00f3gy\u00e1szati Klinika Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Jakab","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Sz\u00fcl\u00e9szeti \u00e9s N\u0151gy\u00f3gy\u00e1szati Klinika Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Attila","family":"Varga","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Urol\u00f3giai Klinika Debrecen"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9va","family":"Ol\u00e1h","sequence":"additional","affiliation":[{"name":"Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum Gyermekgy\u00f3gy\u00e1szati Int\u00e9zet, Klinikai Genetikai K\u00f6zpont Debrecen Nagyerdei krt. 98. 4032"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"atypb1","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.beem.2010.08.006","volume":"25","year":"2011","journal-title":"Best Pract. 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