An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes. Issue 1 (January 1991)

• Record Type: Journal Article
• Authors: Cooper, C; Crolla, J A; Laister, C; Johnston, D I; Cooke, P
• Is Part Of: Journal of medical genetics. Volume 28:Issue 1(1991)
• Page Start: 6
• Page End: 9
• Publication Date: 1991-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.28.1.6
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We have studied three patients with features of Turner's syndrome, two with a 45, X/46, X, r(?) and the third with a 45, X/46, X, dic?(Y) karyotype. Because Turner's syndrome patients with a mosaic karyotype containing a Y chromosome are known to have a high risk of developing gonadal tumours, we used DNA analysis and in situ hybridisation with X and Y specific probes to identify the chromosomal origin of the rings and dicentric chromosomes in the three index patients. Both ring chromosomes were shown to be of X origin, while the dicentric was composed of Y chromosome material. We discuss the importance of using a combination of molecular and cytogenetic analyses in such cases.