Pregled bibliografske jedinice broj: 549828
Somatic mosaicism in cases with small supernumerary marker chromosomes
Somatic mosaicism in cases with small supernumerary marker chromosomes // Current genomics, 11 (2010), 6; 432-439 doi:10.2174/138920210793176029 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 549828 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Somatic mosaicism in cases with small supernumerary marker chromosomes
Autori
Liehr, Thomas ; Karamysheva, Tatyana ; Merkas, Martina ; Brecevic, Lukrecija ; . Hamid, Ahmed ; Ewers, Elisabeth ; Mrasek, Kristin ; Nadezda, Kosyakova ; Weise, Anja
Izvornik
Current genomics (1389-2029) 11
(2010), 6;
432-439
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
mosaic ; small supernumerary marker chromosomes (sSMC) ; genotype-phenotype correlation
Sažetak
Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.e. karyotypes of 47, +mar/46. In this study, the data available in the literature were collected concerning the frequency mosaicism in different subgroups of patients with sSMC. Of 3124 cases with sSMC 1626 (52%) present with somatic mosaicism. Some groups like patients with Emanuel-, cat-eye- or i(18p)- syndrome only tend rarely to develop mosaicism, while in Pallister-Killian syndrome every patient is mosaic. In general, acrocentric and nonacrocentric derived sSMCs are differently susceptible to mosaicism ; non-acrocentric derived ones are hereby the less stable ones. Even though, in the overwhelming majority of the cases, somatic mosaicism does not have any detectable clinical effects, there are rare cases with altered clinical outcomes due to mosaicism. This is extremely important for prenatal genetic counseling. Overall, as mosaicism is something to be considered in at least every second sSMC case, array-CGH studies cannot be offered as a screening test to reliably detect this kind of chromosomal aberration, as low level mosaic cases and cryptic mosaics are missed by that.
Izvorni jezik
Engleski
Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-1081870-1888 - MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (Brečević, Lukrecija, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
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::
- Science Citation Index Expanded™, Biochemistry & Biophysics Citation Index, Journal Citation Reports/Science Edition, BIOSIS, BIOSIS Previews, BIOSIS Reviews Reports and Meetings, PubMed Central, PubMed, EMBASE/Excerpta Medica, BIOBASE, EMBASE , Scopus, Chemical Abstracts, EMBiology, Genamics JournalSeek, MediaFinder®-Standard Periodical Directory.