Pregled bibliografske jedinice broj: 178296
Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization
Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization // Croatian medical journal, 44 (2003), 4; 477-479 (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 178296 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization
Autori
Lasan Trčić, R. ; Hitrec, V. ; Letica, L. ; Ćuk, Mario ; Begović, Davor
Izvornik
Croatian medical journal (0353-9504) 44
(2003), 4;
477-479
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
deletion; proximal p-arm chromose 2
Sažetak
Conventional cytogenetics detected an interstitial deletion of proximal region of p-arm of chromosome 2 in a 6-month-old boy with a phenotype slightly resembling Down's syndrome. The deletion was inherited from the father, whose karyotype revealed a small ring-shaped marker chromosome, in addition to interstitial deletion. Fluorescence in situ hybridization identified the marker, which consisted of the proximal region of the p-arm of chromosome 2, including a part of its centromere. This case shows that molecular cytogenetic analysis can reveal the mechanism of the formation of the marker chromosome.
Izvorni jezik
Engleski
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- Science Citation Index Expanded (SCI-EXP)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE
