title: Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection.
abstract: Cytogenetic investigations were performed in 781 couples prior to intracytoplasmic sperm injection (ICSI) because of severe male infertility or fertilization failures in previous in-vitro fertilization attempts. Out of these 1562 patients, 1012 had a normal karyotype without any aberrations (64.8%), 204 patients had an abnormal karyotypes (13.1%). These chromosome aberrations included constitutional aberrations (4.4%), fragile sites of autosomes (3.0%), low level mosaicism of sex chromosomes (4.0%) and secondary structural chromosome aberrations (4.2%). Combinations of different types of abnormalities were stated. Another 346 patients (22.1%) showed single cell aberrations; the significance of these is unclear at the moment. Constitutional chromosome aberrations were detected in 69 patients. The following chromosome aberrations were observed: 35 sex chromosomal aberrations (comprising hyperploidies of X or Y chromosomes, mosaicisms and derivative X and Y chromosomes), 34 autosomal aberrations including 14 reciprocal translocations, five Robertsonian translocations, six inversions, one marker chromosome, one trisomy 18 mosaicism and seven other structural aberrations. Three autosomal regions showed fragile sites: 6q13 in 2.9% of the patients, 17p12 and 10q24 in 0.05% each. In conclusion, our data show that a high number of infertile couples in an ICSI programme are affected by chromosome aberrations which occur in both sexes. It is suggested that a chromosomal analysis should be performed on both partners before ICSI treatment is initiated.
authors.affiliation: Department of Human Genetics, Department of Endocrinology and Reproductive Medicine, University of Bonn, 53111 Bonn, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Peschka
authors.forename: J
authors.initials: J
authors.lastname: Leygraaf
authors.forename: K
authors.initials: K
authors.lastname: Van der Ven
authors.forename: M
authors.initials: M
authors.lastname: Montag
authors.forename: B
authors.initials: B
authors.lastname: Schartmann
authors.forename: R
authors.initials: R
authors.lastname: Schubert
authors.forename: H
authors.initials: H
authors.lastname: van der Ven
authors.forename: G
authors.initials: G
authors.lastname: Schwanitz
mesh_terms: D002869:Chromosome Aberrations; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D007446:Chromosome Inversion; D003593:Cytoplasm; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods*; D006801:Humans; D007248:Infertility, Male; D007621:Karyotyping; D008297:Male; D008845:Microinjections; D009030:Mosaicism; D009865:Oocytes / Q000648:ultrastructure; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic; D014314:Trisomy