Pregled bibliografske jedinice broj: 409569
Fluorescence in situ Hybridization in prenatal diagnosis
Fluorescence in situ Hybridization in prenatal diagnosis // ESHG
Nica, Francuska, 2007. (poster, međunarodna recenzija, sažetak, ostalo)
CROSBI ID: 409569 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Fluorescence in situ Hybridization in prenatal diagnosis
Autori
Ljubic, H ; Lasan, R ; Letica, L ; Burek, M ; Muzinic, D ; Begovic ; D
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo
Izvornik
ESHG
/ - , 2007
Skup
European HUMAN GENETICS Conference 2007
Mjesto i datum
Nica, Francuska, 16.06.2007. - 19.06.2007
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
FISH; Prenatal diagnosis
Sažetak
Samples of amniotic fluid from 49 patients were analyzed using Fluorescence in situ Hybridization (FISH) technique, applied on cultured and uncultured amniotic cells. Indications for FISH analysis on uncultured amniotic cells were: late weeks of gestation, abnormal ultrasound markers, abnormal serum-screening test, chromosome reciprocal translocation in parents and sex-chromosome related diseases. Analyses on 17 samples of uncultured amniocytes revealed two pathological karyotypes (11, 8 %). FISH analysis on 32 cultured samples was used as adjunct technique after classical cytogenetical analysis. Indications for 24 samples were suspected chromosomal structural de novo and numerical aberrations, 5 were investigated for population variants of acrocentric chromosomes and 3 for parents carriers of reciprocal translocation. From total number of 32 samples, 14 karyotypes were pathological (43, 8 %) and 18 karyotypes were normal (56, 2 %). Following analyses on cultured amniocytes, 4 medically indicated abortions were recommended as well as 1 medically indicated abortion after uncultured amniocytes analysis. FISH is a fast, powerful molecular cytogenetic technique used as an supplement to conventional chromosomal analysis.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Ružica Lasan Trčić
(autor)
Davor Begović
(autor)
Dubravka Mužinić-Belinec
(autor)
Ljiljana Letica
(autor)