Artículos de revistas
[the Use Of Fish On Buccal Smear To Investigate Mosaicism With A 45,x Cell Line: Study On Healthy Men And Patients With Disorders Of Sex Development].
Registro en:
Arquivos Brasileiros De Endocrinologia E Metabologia. v. 58, n. 4, p. 328-34, 2014-Jun.
1677-9487
24936726
Autor
de Paulo, Juliana
de Andrade, Juliana Gabriel Ribeiro
dos Santos, Ana Paula
Gil-da-Silva-Lopes, Vera Lúcia
Guerra-Júnior, Gil
Maciel-Guerra, Andréa Trevas
Institución
Resumen
To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium. 58 328-34