title: Clinical, cytogenetic and molecular analysis of three 46,XX males.
abstract: Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase gene, PRKY, previously described as a hotspot of ectopic recombination between homologous regions on X and Y chromosomes during male meiosis. The slightly different clinical phenotypes of the three patients cannot be correlated with the localization of the breakpoints.
authors.affiliation: Clinical Genetics, Children's Hospital, Salzburg, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Plöchl
authors.forename: I
authors.initials: I
authors.lastname: Vlasak
authors.forename: O
authors.initials: O
authors.lastname: Rittinger
authors.forename: E
authors.initials: E
authors.lastname: Bergendi
authors.forename: M
authors.initials: M
authors.lastname: Stopar
authors.forename: P
authors.initials: P
authors.lastname: Kurnik
authors.forename: M
authors.initials: M
authors.lastname: Nachtigall
authors.forename: H
authors.initials: H
authors.lastname: Zierler
authors.forename: G A
authors.initials: GA
authors.lastname: Rappold
authors.forename: K
authors.initials: K
authors.lastname: Schiebel
mesh_terms: D000328:Adult; D002648:Child; D006063:Chorionic Gonadotropin; D003582:Cytogenetics; D004247:DNA / Q000235:genetics; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics* / Q000648:ultrastructure
chemical_list: D006063:Chorionic Gonadotropin; D012739:Gonadal Steroid Hormones; D004247:DNA