Pregled bibliografske jedinice broj: 349000
Characterization of small supernumerary marker chromosomes (sSMC) by a simple molecular and molecular cytogenetics approach
Characterization of small supernumerary marker chromosomes (sSMC) by a simple molecular and molecular cytogenetics approach // Balkan journal of medical genetics, 10 (2007), 2; 33-38 doi:10.2478/v10034-007-0006-5 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 349000 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Characterization of small supernumerary marker
chromosomes (sSMC) by a simple molecular and
molecular cytogenetics approach
Autori
Liehr, T. ; Trifonov V. ; Polityko, A. ; Brečević, Lukrecija ; Mrasek, K. ; Weise, A. ; Ewers, E. ; Reich, D. ; Iourov, I. ; Mkrtchyan, H. ; Manvelyan, M. ; Kosyakova, N.
Izvornik
Balkan journal of medical genetics (1311-0160) 10
(2007), 2;
33-38
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
small supernumerary marker chromosomes (sSMC) ; cytogenetic(s) ; fluorescence in situ hybridization (FISH) ; metaphase FISH ; molecular cytogenetics ; prenatal diagnostics
Sažetak
Small supernumerary marker chromosomes (sSMC) are still a major problem especially in prenatal cytogenetic diagnostics and counseling. These structurally abnormal chromosomes cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chromosome 20 in the same metaphase spread. We describe a straightforward algorithm, based on data from 2, 211 reported cases (http://www.markerchromosomes.ag.vu) to quickly characterize the sSMC’ s chromosomal origin.
Izvorni jezik
Engleski
Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
MZOS-108-1081870-1888 - MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (Brečević, Lukrecija, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Lukrecija Brečević
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
Uključenost u ostale bibliografske baze podataka::
- EMBASE (Excerpta Medica)