Pregled bibliografske jedinice broj: 409510
Cytogenetic analysis of turner syndrome
Cytogenetic analysis of turner syndrome // ESHG
Barcelona, Španjolska, 2008. (poster, međunarodna recenzija, sažetak, stručni)
CROSBI ID: 409510 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Cytogenetic analysis of turner syndrome
Autori
Letica, L ; Lasan, R ; Tonković Ð ; urišević, I ; Crkvenac Gornik, K ; Burek, M ; Begović, D
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni
Izvornik
ESHG
/ - , 2008
Skup
European HUMAN GENETICS Conference 2008
Mjesto i datum
Barcelona, Španjolska, 31.05.2008. - 03.06.2008
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
Turner syndrome; Cytogenetic analysis
Sažetak
Turner syndrome is caused by the absence of all or part of the second sex chromosome. In our study on 100 female patients clinically diagnosed with Turner syndrome: 46 patients were 45, X 10 patients were mos 45, X/46, XX 2 patients were mos 45, X/47, XXX/46, XX 8 patients were mos 45, X/47, XXX 31 patients had a structurally abnormal X chromosome (mainly isochromosome, deletion p or q arm, ring X chromosome) and 2 patients had a structurally changed Y chromosome The phenotype is variable and includes short stature and gonadal dysgenesis. Mental retardation is not a feature of Turner syndrome. Conventional cytogenetical G-banding method and Fluorescence in situ hybridization technique were considered in cultured peripheral blood. Postnatal recognation of the syndrome requires genetic counselling of parents and supportive multidisciplinary treatment.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0049 - Zloćudne bolesti u djece (Konja, Josip, MZOS ) ( CroRIS)
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb