Use of molecular cytogenetic techniques for establishing the origin of chromosome markers in patients with Turner phenotype
Bocian, E.; Stańczak, H.; Wiśniewski, A.; Mazurczak, T.; Stankiewicz, P.
Pediatria Polska 71(3): 203-209
1996
ISSN/ISBN: 0031-3939 PMID: 8966091 Document Number: 462051
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.