title: [The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility].
abstract: The causes of primary sterility are complex and frequently difficult to elucidate. Cytogenetic anomalies are responsible for sterility in 5-10% infertile couples.
  
  
  OBJECTIVE
  Analysis of genetic background of primary sterility in 35 infertile couples.
  
  
  METHODS
  72h cultures of peripheral blood lymphocytes, GTG and CBG banding, fluorescence in situ hybrydization (FISH) with whole chromosome painting (WCP) probes. Karyotype analysis was performed in each patient out of 35 infertile couples referred to genetic counsel. SRY and CFTR gene mutation analysis by PCR was performed in all men with abnormal sperm.
  
  
  RESULTS
  Chromosome aberrations were found in 6 couples. Klinefelter syndrome (47,XXY) was disclosed in 2 men. Isochromosome i(Xq) was found in 1 woman. The structural balanced translocations were found in 2 men; t(15;16)(q13;p13.3), t(1;19)(p35;q13.3) and a robertsonian translocation t(14;21)(q10;q10) in one. All men with chromosome aberrations had sperm anomalies: oligozoospermia, astenozoospermia, cryptozoospermia or azoospermia. There was a CFTR mutation, deltaF508, in one man and no SRY mutation in molecularly examined men with sperm abnormalities.
  
  
  CONCLUSIONS
  In couples with primary sterility mainly the men are carriers of chromosome aberrations (CA). Because of 17.14% risk of the presence of chromosome aberrations in these couples, cytogenetic analysis should be an obligatory element of infertility diagnosis.
authors.affiliation: Katedry i Zakładu Genetyki Klinicznej Collegium Medicum Uniwersytetu Mikołaja Kopernika w Bydgoszczy.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Pasińska
authors.forename: Olga
authors.initials: O
authors.lastname: Haus
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Skonieczka
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slezak
authors.forename: Alina T
authors.initials: AT
authors.lastname: Midro
authors.forename: Beata
authors.initials: B
authors.lastname: Stasiewicz-Jarocka
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Szczepaniak
authors.forename: Rafał
authors.initials: R
authors.lastname: Adamczak
authors.forename: Anna
authors.initials: A
authors.lastname: Marcinkowska
authors.forename: Kamilla
authors.initials: K
authors.lastname: Bartusiak
mesh_terms: D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D024282:Genes, sry / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007247:Infertility, Female / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008967:Molecular Biology / Q000379:methods*; D017354:Point Mutation / Q000235:genetics
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator