title: [Citogenetic and molecular genetic studies in infertility in eastern Hungary].
abstract: BACKGROUND
  In developed countries 10-15% of the couples are affected by infertility. In half of them genetic factors can be identified.
  
  
  OBJECTIVE
  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.
authors.affiliation: Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Gyermekgyógyászati Intézet, Klinikai Genetikai Központ Debrecen Nagyerdei krt. 98. 4032.
authors.forename: Attila
authors.initials: A
authors.lastname: Mokánszki
authors.forename: Anikó
authors.initials: A
authors.lastname: Ujfalusi
authors.forename: Erzsébet
authors.initials: E
authors.lastname: Balogh
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Molnár
authors.forename: Tamás
authors.initials: T
authors.lastname: Sápy
authors.forename: Attila
authors.initials: A
authors.lastname: Jakab
authors.forename: Attila
authors.initials: A
authors.lastname: Varga
authors.forename: Eva
authors.initials: E
authors.lastname: Oláh
mesh_terms: D000328:Adult; D000782:Aneuploidy; D053713:Azoospermia / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D006814:Hungary; D006820:Hyaluronic Acid / Q000378:metabolism; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D008967:Molecular Biology / Q000379:methods; D009154:Mutation; D009845:Oligospermia / Q000235:genetics; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000235:genetics*; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D013094:Spermatozoa / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: D006820:Hyaluronic Acid