title: Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques.
abstract: BACKGROUND
  This study analyses the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques.
  
  
  METHODS
  Prior to receiving either IVF or ICSI treatment, each partner of 2078 infertile couples was screened for karyotype changes by GTG-banding technique on peripheral lymphocytes. No subject presented with obvious phenotype of chromosomal rearrangement. All the oligo/azoospermic men with normal karyotype were further investigated by PCR for Yq11 microdeletions.
  
  
  RESULTS
  Eighty-two out of 2078 couples (3.95%) had one partner carrying a chromosomal change, and 10 out of 202 (4.95%) men showed Yq11 microdeletions. The chromosomal rearrangements were 44 (2.1%) translocations, 23 (1.1%) gonosomal mosaics, six (0.3%) 47,XXY, five (0.24%) marker chromosomes, three (0.14%) inversions and one (0.05%) duplication. Frequency of anomalies in men and women were similar: 42 and 40 cases respectively.
  
  
  CONCLUSIONS
  Partners of infertile couples requiring IVF or ICSI treatment appear to be affected by higher frequency of chromosomal rearrangements than the general population. Categories with greater risk were represented by men with sperm cell count <20 x 10(6) sperm/ml, and women with history of pregnancy loss.
authors.affiliation: Sezione di Ostetricia e Ginecologia, Dipartimento di Medicina e Scienze dell'Invecchiamento, Facoltà di Medicina e Chirurgia, Università G.d'Annunzio, Ospedale SS. Annunziata, Via dei Vestini, 66013-Chieti and ITOI-CNR, Bologna, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Clementini
authors.forename: C
authors.initials: C
authors.lastname: Palka
authors.forename: I
authors.initials: I
authors.lastname: Iezzi
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
authors.forename: P
authors.initials: P
authors.lastname: Guanciali-Franchi
authors.forename: G M
authors.initials: GM
authors.lastname: Tiboni
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000453:epidemiology* / Q000235:genetics*; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology; D015995:Prevalence; D012307:Risk Factors