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: V Petrovic, S Nasioulas, C W Chow, L Voullaire, M Schmidt, H Dahl
• Journal: Journal of medical genetics (J Med Genet) Vol. 29 Issue 8 Pg. 542-6 (Aug 1992) ISSN: 0022-2593 [Print] England
• PMID: 1518023 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA Probes
• Genetic Markers
• DNA

Topics

• Base Sequence
• Blotting, Southern
• Child
• Chromosome Aberrations
• Chromosome Disorders
• DNA (genetics)
• DNA Probes
• Dysgerminoma (genetics)
• Female
• Genetic Markers
• Humans
• Karyotyping
• Molecular Sequence Data
• Nucleic Acid Hybridization
• Y Chromosome