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Type: Artigo de periódico
Title: 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 [uso Da Fish Em Mucosa Oral Para Investigação De Mosaicismo Com Linhagem 45,x: Estudo Com Homens Saudáveis E Pacientes Com Distúrbios Da Diferenciação Do Sexo]
Author: de Paulo J.
de Andrade J.G.R.
dos Santos A.P.
Gil-da-Silva-Lopes V.L.
Guerra-Junior G.
Maciel-Guerra A.T.
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. © ABE&M todos os direitos reservados.
Editor: Sociedade Brasileira de Endocrinologia e Metabologia
Rights: aberto
Identifier DOI: 10.1590/0004-2730000002853
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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