PMID- 24936726
OWN - NLM
STAT- MEDLINE
DCOM- 20150518
LR  - 20190918
IS  - 1677-9487 (Electronic)
IS  - 0004-2730 (Linking)
VI  - 58
IP  - 4
DP  - 2014 Jun
TI  - [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].
PG  - 328-34
LID - S0004-27302014000400328 [pii]
AB  - 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.
FAU - Paulo, Juliana de
AU  - Paulo Jd
AD  - Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, 
      Brasil.
FAU - Andrade, Juliana Gabriel Ribeiro de
AU  - Andrade JG
AD  - FCM, Unicamp, Campinas, SP, Brasil.
FAU - Santos, Ana Paula dos
AU  - Santos AP
AD  - Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Campinas, SP, 
      Brasil.
FAU - Gil-da-Silva-Lopes, Vera Lucia
AU  - Gil-da-Silva-Lopes VL
AD  - Departamento de Genetica Medica, FCM, Unicamp, Campinas, SP, Brasil.
FAU - Guerra-Junior, Gil
AU  - Guerra-Junior G
AD  - Departamento de Pediatria, FCM, Unicamp, Campinas, SP, Brasil.
FAU - Maciel-Guerra, Andrea Trevas
AU  - Maciel-Guerra AT
AD  - Departamento de Genetica Medica, FCM, Unicamp, Campinas, SP, Brasil.
LA  - por
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
TT  - Uso da FISH em mucosa oral para investigacao de mosaicismo com linhagem 45,X: 
      estudo com homens saudaveis e pacientes com disturbios da diferenciacao do sexo.
PL  - Brazil
TA  - Arq Bras Endocrinol Metabol
JT  - Arquivos brasileiros de endocrinologia e metabologia
JID - 0403437
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Cell Nucleus
MH  - Child
MH  - Child, Preschool
MH  - Disorders of Sex Development/blood/*genetics/*pathology
MH  - Female
MH  - Gonadal Dysgenesis, 46,XY/blood/genetics
MH  - Gonadal Dysgenesis, Mixed/blood/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infertility, Male/genetics
MH  - Interphase
MH  - Lymphocytes
MH  - Male
MH  - *Mosaicism
MH  - *Mouth Mucosa
MH  - Turner Syndrome/genetics
MH  - Young Adult
EDAT- 2014/06/18 06:00
MHDA- 2015/05/20 06:00
CRDT- 2014/06/18 06:00
PHST- 2013/06/24 00:00 [received]
PHST- 2013/11/25 00:00 [accepted]
PHST- 2014/06/18 06:00 [entrez]
PHST- 2014/06/18 06:00 [pubmed]
PHST- 2015/05/20 06:00 [medline]
AID - S0004-27302014000400328 [pii]
AID - 10.1590/0004-2730000002853 [doi]
PST - ppublish
SO  - Arq Bras Endocrinol Metabol. 2014 Jun;58(4):328-34. doi: 
      10.1590/0004-2730000002853.