PMID- 9005512
OWN - NLM
STAT- MEDLINE
DCOM- 19970127
LR  - 20061115
IS  - 0034-8376 (Print)
IS  - 0034-8376 (Linking)
VI  - 48
IP  - 5
DP  - 1996 Sep-Oct
TI  - [Detection of aneuploidies using in situ hybridization in cells of the oral 
      mucosa].
PG  - 355-60
AB  - Aneuploidies have been traditionally diagnosed by chromosome analysis, however 
      this method may be difficult to perform in certain cellular types or in severely 
      ill patients. With the fluorescence in situ hybridization (FISH) technique it is 
      possible to identify the number of specific chromosomes in interphase cells. In 
      the present study we analyzed exfoliated epithelial cells from the oral mucosa of 
      15 patients with trisomy 21, and in six patients with mosaicism; five normal 
      subjects were included for comparison. To allow the probe to reach its target DNA 
      we first treated the keratin-surrounded membrane with pepsin during 20 minutes. 
      In the 15 cases of trisomy 21, the cells showed five fluorescent signals 
      indicating the presence of three chromosomes 21 and two 13, while the normal 
      subjects showed four signals. In one girl with Turner syndrome and a karyotype 
      46,X+mar, the FISH analysis in 1000 cells revealed that the marker derived from 
      chromosome X and there was a mosaicism 45,X/46,X,r(X). In the other patients with 
      mosaicisms, we observed variations in the proportions of cells but the 
      differences were not significant. In conclusion, interphase FISH on buccal cells 
      showed to be a rapid, effective and non-invasive method for the diagnosis of 
      chromosome aberrations, particularly when the cytogenetic study on lymphocytes is 
      difficult to perform.
FAU - Frias, S
AU  - Frias S
AD  - Departamento de Investigacion en Genetica Humana, Instituto Nacional de 
      Pediatria, Mexico D.F.
FAU - Ordaz, G
AU  - Ordaz G
FAU - Blanco, B
AU  - Blanco B
FAU - Molina, B
AU  - Molina B
FAU - del Castillo, V
AU  - del Castillo V
FAU - Carnevale, A
AU  - Carnevale A
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Deteccion de aneuploidias por hibridacion in situ en celulas de mucosa oral.
PL  - Mexico
TA  - Rev Invest Clin
JT  - Revista de investigacion clinica; organo del Hospital de Enfermedades de la 
      Nutricion
JID - 9421552
SB  - IM
MH  - *Aneuploidy
MH  - Down Syndrome/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Mouth Mucosa
EDAT- 1996/09/01 00:00
MHDA- 1996/09/01 00:01
CRDT- 1996/09/01 00:00
PHST- 1996/09/01 00:00 [pubmed]
PHST- 1996/09/01 00:01 [medline]
PHST- 1996/09/01 00:00 [entrez]
PST - ppublish
SO  - Rev Invest Clin. 1996 Sep-Oct;48(5):355-60.