Document Detail

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