[Use of molecular cytogenetic techniques for establishing the origin of chromosome markers in patients with Turner phenotype].
Results of marker chromosome identification using the FISH technique are presented. The origin of markers was determined in 11 patients with mosaic karyotype 45,X/46,X,mar. Using probes specific for X and Y chromosomes, we demonstrated that in 8 patients the marker originated from the X chromosome and in 3 cases it was an abnormal Y chromosome. These 3 patients were identified as at high risk for developing gonadoblastoma and prophylactic gonadectomy was performed. Results of these studies show that the FISH technique is a very useful method in the diagnosis of sex chromosome abnormalities.
Bocian
E
E
Zakład Genetyki Instytutu Matki i Dziecka w Warszawie.
Stańczak
H
H
Wiśniewski
A
A
Mazurczak
T
T
Stankiewicz
P
P
D002648:Child; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D007621:Karyotyping; D010641:Phenotype; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
D005819:Genetic Markers
Zastosowanie technik cytogenetyki molekularnej w ustalaniu pochodzenia chromosomów markerowych u chorych z fenotypem Turnera.