title: Infertility and marker chromosomes: application of molecular cytogenetic techniques in a case of inv dup(15).
abstract: We report on a phenotypically normal man with infertility, whose 47,XY,+mar karyotype was studied by spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) using a chromosome-15-specific probe (LSI SNRPN). By these techniques, the marker chromosome was identified as a small inv dup (15). Possible causes for male infertility in this case are discussed.
authors.affiliation: Department of Medical Genetics - School of Medicine State University of Campinas, CP 6111 CEP 13083-970 Campinas, SP - Brazil.
authors.forename: Tania M
authors.initials: TM
authors.lastname: Vulcani-Freitas
authors.forename: Vera L
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
authors.forename: Marileila
authors.initials: M
authors.lastname: Varella-Garcia
authors.forename: Andréa T
authors.initials: AT
authors.lastname: Maciel-Guerra
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005260:Female; D020440:Gene Duplication; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D032681:Spectral Karyotyping
chemical_list: D005819:Genetic Markers