PT  - JOURNAL ARTICLE
AU  - Cooper, C
AU  - Crolla, J A
AU  - Laister, C
AU  - Johnston, D I
AU  - Cooke, P
TI  - 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.
AID  - 10.1136/jmg.28.1.6
DP  - 1991 Jan 01
TA  - Journal of Medical Genetics
PG  - 6--9
VI  - 28
IP  - 1
4099  - http://jmg.bmj.com/content/28/1/6.short
4100  - http://jmg.bmj.com/content/28/1/6.full
SO  - J Med Genet1991 Jan 01; 28
AB  - 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.