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.
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.
Cooper
C
C
Department of Cytogenetics, City Hospital, Nottingham.
Crolla
J A
JA
Laister
C
C
Johnston
D I
DI
Cooke
P
P
D000293:Adolescent; D002503:Centromere; D002648:Child; D002869:Chromosome Aberrations; D003360:Cosmids; D004247:DNA / Q000032:analysis; D015342:DNA Probes; D015246:Deoxyribonuclease EcoRI; D004407:Dysgerminoma / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D010051:Ovarian Neoplasms / Q000235:genetics; D012303:Ring Chromosomes; D012307:Risk Factors; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
D015342:DNA Probes; D004247:DNA; D015246:Deoxyribonuclease EcoRI