| Full text | |
| Author(s): |
Juliana de Paulo
[1]
;
Juliana Gabriel Ribeiro de Andrade
[2]
;
Ana Paula dos Santos
[3]
;
Vera Lúcia Gil-da-Silva-Lopes
[4]
;
Gil Guerra-Júnior
[5]
;
Andréa Trevas Maciel-Guerra
[6]
Total Authors: 6
|
| Affiliation: | [1] Universidade Estadual de Campinas. Faculdade de Ciências Médicas - Brasil
[2] Unicamp. FCM - Brasil
[3] Universidade Estadual de Campinas. Faculdade de Ciências Médicas - Brasil
[4] Unicamp. FCM. Departamento de Genética Médica - Brasil
[5] Unicamp. FCM. Departamento de Pediatria - Brasil
[6] Unicamp. FCM. Departamento de Genética Médica - Brasil
Total Affiliations: 6
|
| Document type: | Journal article |
| Source: | Arquivos Brasileiros de Endocrinologia e Metabologia; v. 58, n. 4, p. 328-334, 2014-06-00. |
| Abstract | |
Objective: 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. Subjects and methods: 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. Results: 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. Conclusions: 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. (AU) | |