Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies
| Autor: | Lucille Voullaire, H Dahl, Vida Petrovic, Chung Wo Chow, S Nasioulas, M Schmidt |
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| Rok vydání: | 1992 |
| Předmět: |
Genetic Markers
medicine.medical_specialty endocrine system Gonad Marker chromosome Molecular Sequence Data Gonadoblastoma Chromosome Disorders Dysgerminoma Biology Y chromosome Y Chromosome Genetics medicine Humans Child Genetics (clinical) Chromosome Aberrations Base Sequence urogenital system Cytogenetics Nucleic Acid Hybridization Karyotype DNA medicine.disease Molecular biology Blotting Southern medicine.anatomical_structure Genetic marker Karyotyping Female DNA Probes Research Article |
| Zdroj: | Journal of medical genetics. 29(8) |
| ISSN: | 0022-2593 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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