| [Citogenetic and molecular genetic studies in infertility in East Hungary]. | |
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MedLine Citation:
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PMID: 23291203 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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, 52-61. |
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Authors:
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Attila Mokánszki; Anikó Ujfalusi; Erzsébet Balogh; Zsuzsanna Molnár; Tamás Sápy; Attila Jakab; Attila Varga; Eva Oláh |
Publication Detail:
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Type: English Abstract; Journal Article |
Journal Detail:
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Title: Orvosi hetilap Volume: 154 ISSN: 0030-6002 ISO Abbreviation: Orv Hetil Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-01-07 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0376412 Medline TA: Orv Hetil Country: Hungary |
Other Details:
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Languages: hun Pagination: 52-61 Citation Subset: IM |
Affiliation:
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Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032. |
Vernacular Title:
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Infertilitásban végzett citogenetikai és molekuláris genetikai vizsgálatok a kelet-magyarországi régióban. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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