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].
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.
  
  
  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.
authors.affiliation: Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
authors.forename: Juliana de
authors.initials: Jd
authors.lastname: Paulo
authors.affiliation: FCM, Unicamp, Campinas, SP, Brasil.
authors.forename: Juliana Gabriel Ribeiro de
authors.initials: JG
authors.lastname: Andrade
authors.affiliation: Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
authors.forename: Ana Paula dos
authors.initials: AP
authors.lastname: Santos
authors.affiliation: Departamento de Genética Médica, FCM, Unicamp, Campinas, SP, Brasil.
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes
authors.affiliation: Departamento de Pediatria, FCM, Unicamp, Campinas, SP, Brasil.
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Júnior
authors.affiliation: Departamento de Genética Médica, FCM, Unicamp, Campinas, SP, Brasil.
authors.forename: Andréa Trevas
authors.initials: AT
authors.lastname: Maciel-Guerra
mesh_terms: D000293:Adolescent; D000328:Adult; D002467:Cell Nucleus; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000097:blood / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000097:blood / Q000235:genetics; D006060:Gonadal Dysgenesis, Mixed / Q000097:blood / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D007399:Interphase; D008214:Lymphocytes; D008297:Male; D009030:Mosaicism; D009061:Mouth Mucosa; D014424:Turner Syndrome / Q000235:genetics; D055815:Young Adult