Pregled bibliografske jedinice broj: 463383
MOLECULAR CYTOGENETIC CHARACTERIZATION OF SMALL SUPERNUMERARY MARKER CHROMOSOMES (sSMC)
MOLECULAR CYTOGENETIC CHARACTERIZATION OF SMALL SUPERNUMERARY MARKER CHROMOSOMES (sSMC) // Knjiga sažetaka 4. hrvatskog kongresa iz humane genetike u: Paediatria Croatica / Barišić, Ingeborg (ur.).
Zagreb: Klinika za dječje bolesti, 2007. (predavanje, domaća recenzija, sažetak, znanstveni)
CROSBI ID: 463383 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
MOLECULAR CYTOGENETIC CHARACTERIZATION OF SMALL SUPERNUMERARY MARKER CHROMOSOMES (sSMC)
Autori
Brečević, L ; Michel, S ; Starke, H ; Müller, K ; Kosyakova, N ; Mrasek, K ; Weise, A ; Liehr T
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Knjiga sažetaka 4. hrvatskog kongresa iz humane genetike u: Paediatria Croatica
/ Barišić, Ingeborg - Zagreb : Klinika za dječje bolesti, 2007
Skup
4. hrvatski kongres iz humane genetike
Mjesto i datum
Malinska, Hrvatska, 18.10.2007. - 20.10.2007
Vrsta sudjelovanja
Predavanje
Vrsta recenzije
Domaća recenzija
Ključne riječi
small supernumerary marker chromosomes; sSMC; cell lines; molecular cytogenetics
Sažetak
By definition small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes which are too small to be characterized by banding techniques alone ; and are equal or smaller than chromosome 20 of the same metaphase spread. For their identification and precise delineation molecular cytogenetics is required. As to their origin, about one third are derived from chromosome 15 ; one third produces four specific clinical phenotypes: Pallister-Killian syndrome, der(22)-, inv dup (22)/cat-eye syndrome, and i(18p)-syndrome ; and one third of small markers have not yet been correlated with clinical syndromes. When during the cytogenetic analysis a small marker chromosome is found, problems from the clinical side arise, because often there is an indistinct phenotype, the breakpoints on both arms are variable, and usually there are no familial cases available for reference. Furthermore, if marker is found at prenatal diagnosis, there is very limited time for workup and it is not easy to predict the clinical outcome. An additional problem is that the phenotype might be partially due to uniparental disomy. The ideal methods for identification of such small markers are M-FISH, reverse painting and aCGH. In this context an approach for the straightforward, precise and reliable characterization of sSMCs developed by Jena's group, includes cenM-FISH for the identification of the marker origin, followed by subcenM-FISH and MCB for the breakpoints characterization. The power of this comprehensive approach is demonstrated in the study of 14 sSMC cell lines obtained from the ECACC, and an overview of sSMC in humans is addressed in addition.
Izvorni jezik
Engleski
Znanstvena područja
Temeljne medicinske znanosti
POVEZANOST RADA
Projekti:
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