title: Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection.
abstract: A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, autosomal reciprocal translocations in five cases, reciprocal translocation involving a sex chromosome in one case, inversions in three cases and a marker chromosome in one male. Chromosomal variants found in 11 women and 13 men were not included in the above percentages. Couples with a chromosomal aberration in one partner received a second counselling. The different aspects of genetic counselling in these couples are discussed. In conclusion, we recommend genetic counselling and chromosomal analysis of men and women prior to ICSI therapy.
authors.affiliation: Department of Clinical Genetics, University of Tübingen, Germany.
authors.forename: U A
authors.initials: UA
authors.lastname: Mau
authors.forename: I T
authors.initials: IT
authors.lastname: Bäckert
authors.forename: P
authors.initials: P
authors.lastname: Kaiser
authors.forename: L
authors.initials: L
authors.lastname: Kiesel
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D005307:Fertilization in Vitro; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D005858:Germany; D006801:Humans; D007246:Infertility / Q000208:ethnology / Q000235:genetics* / Q000628:therapy; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009030:Mosaicism / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011446:Prospective Studies; D012727:Sex Characteristics; D014178:Translocation, Genetic / Q000235:genetics; D014421:Turkey / Q000208:ethnology
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator