title: Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.
abstract: A 12 year old girl referred for chromosome analysis because of short stature was found to have karyotype mos 45,X/46,X,+mar. The marker chromosome was observed in 58% of her blood lymphocytes. It was a small, pale staining, spherical fragment with GTL banding and showed faint differentiation along its length with CBG banding. DNA analysis using Y specific probes showed the absence of the testicular determining region and the presence of some short arm and centromeric Y chromosomal material. In situ hybridisation confirmed that the Y chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads. Gonadectomy was subsequently performed and histological examination showed dysgenetic gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. This case shows that even very small Y derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: V
authors.initials: V
authors.lastname: Petrovic
authors.forename: S
authors.initials: S
authors.lastname: Nasioulas
authors.forename: C W
authors.initials: CW
authors.lastname: Chow
authors.forename: L
authors.initials: L
authors.lastname: Voullaire
authors.forename: M
authors.initials: M
authors.lastname: Schmidt
authors.forename: H
authors.initials: H
authors.lastname: Dahl
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004247:DNA / Q000235:genetics*; D015342:DNA Probes; D004407:Dysgerminoma / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D014998:Y Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA