title: A 46,XY female with mixed gonadal dysgenesis and a 48,XY, +7, +i(12p) chromosome pattern in a primary gonadal tumor.
abstract: Cytogenetic analysis of a primary germ-cell tumor originating from the streak gonad of a 20-year-old phenotypic female with a 46,XY karyotype and mixed gonadal dysgenesis revealed a 48,XY, +7, +i(12p) chromosomal pattern. Germ-cell tumors originating from gonads of normal males are usually highly aneuploid. An isochromosome 12p as well as an overrepresentation of chromosome 7 material are among the specific changes most consistently observed. The present case shows that tumors of dysgenetic gonads, albeit being near-diploid, may exhibit similar chromosomal changes. This observation lends additional support to the hypothesis that these specific cytogenetic anomalies may play an important role in the pathogenesis of human germ-cell tumors.
authors.affiliation: Department of Human Genetics, University of Limburg, Maastricht, The Netherlands.
authors.forename: A
authors.initials: A
authors.lastname: Hamers
authors.forename: B
authors.initials: B
authors.lastname: de Jong
authors.forename: R F
authors.initials: RF
authors.lastname: Suijkerbuijk
authors.forename: A
authors.initials: A
authors.lastname: Geurts van Kessel
authors.forename: J W
authors.initials: JW
authors.lastname: Oosterhuis
authors.forename: J
authors.initials: J
authors.lastname: van Echten
authors.forename: J
authors.initials: J
authors.lastname: Evers
authors.forename: F
authors.initials: F
authors.lastname: Bosman
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000473:pathology*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12; D002897:Chromosomes, Human, Pair 7; D015342:DNA Probes; D005260:Female; D005833:Genital Neoplasms, Female / Q000473:pathology*; D006059:Gonadal Dysgenesis / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations / Q000473:pathology*
chemical_list: D015342:DNA Probes