title: Chromosome aberrations in 500 couples referred for in-vitro fertilization or related fertility treatment.
abstract: Cytogenetic studies were performed in 500 couples referred for in-vitro fertilization or gamete (zygote) intra-Fallopian transfer. Thirteen individuals (1.3%) with chromosomal abnormalities were found. Four major types of anomalies were observed: reciprocal translocations (n = 3), inversions (n = 2), iso-Xq chromosomes (n = 2) and sex chromosome number mosaics (n = 4). Moreover two males with respectively a 47,XYY and a 47,XY,mar+ karyotype were identified. These data pointed to a higher incidence of chromosomal aberrations in this infertile population as compared to a neonatal population without obvious chromosomal pathology. Analysis of the chromosomes which were involved in hyperdiploidy and hypodiploidy in the 30,000 metaphases evaluated, showed a high proportion of cells that had lost or gained an X-chromosome. A puzzling finding was the statistically significant low incidence of 45,X metaphases (0.9%) in women of couples treated on andrological indication as compared to the frequency of 45,X chromosome complements in women with tubal disease (4.0%) or of couples with an idiopathic (4.3%) or mixed female and male (6.7%) indication.
authors.affiliation: Department of Medical Genetics, Vrije Universiteit Brussel, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Hens
authors.forename: M
authors.initials: M
authors.lastname: Bonduelle
authors.forename: I
authors.initials: I
authors.lastname: Liebaers
authors.forename: P
authors.initials: P
authors.lastname: Devroey
authors.forename: A C
authors.initials: AC
authors.lastname: Van Steirteghem
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D007246:Infertility / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D014997:XYY Karyotype