Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.
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.
Petrovic
V
V
Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
Nasioulas
S
S
Chow
C W
CW
Voullaire
L
L
Schmidt
M
M
Dahl
H
H
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
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA