title: Genetic counseling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection.
abstract: OBJECTIVE
  To report the sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome before ICSI.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Institute of Human Genetics, University Hospital
  
  
  METHODS
  A patient with an XXY/XXXY/XY mosaic Klinefelter's syndrome and extreme oligozoospermia.
  
  
  METHODS
  Skin biopsy, buccal smear, hair root sampling, and semen sampling.
  
  
  METHODS
  The karyotypes of three additional somatic cell systems and the ratio of sex chromosome aberrations in sperm.
  
  
  RESULTS
  After two-color fluorescence in situ hybridization of 202 interphase sperm nuclei, both the proportion of hyperhaploid 24, XY and 25, XXY sperm (5.0% and 0.5%, respectively) and of hyperhaploid 24, XX sperm (2.0%) were elevated. In contrast with peripheral lymphocytes, 93.9% of which showed sex chromosome aberrations, in the present patient only 7.5% of sperm proved to be hyperhaploid with an extra sex chromosome.
  
  
  CONCLUSIONS
  The determination of sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome may provide additional information to estimate the transmission risk to his offspring.
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany. KRUSE@HUMGEN.UNI-BONN.DE
authors.forename: R
authors.initials: R
authors.lastname: Kruse
authors.forename: M
authors.initials: M
authors.lastname: Guttenbach
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: M
authors.initials: M
authors.lastname: Schmid
authors.forename: P
authors.initials: P
authors.lastname: Propping
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D005307:Fertilization in Vitro / Q000379:methods*; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics / Q000628:therapy; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D008845:Microinjections; D009030:Mosaicism; D012730:Sex Chromosomes; D013094:Spermatozoa / Q000648:ultrastructure*