Pregled bibliografske jedinice broj: 34712
Partial Trisomy 13 in an Infant with a Mild Phenotype Application of Flourescence In Situ Hybridization in Cytogenetic Syndromes
Partial Trisomy 13 in an Infant with a Mild Phenotype Application of Flourescence In Situ Hybridization in Cytogenetic Syndromes // Croatian medical journal, 39 (1998), 2; 212-215 (podatak o recenziji nije dostupan, članak, znanstveni)
CROSBI ID: 34712 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Partial Trisomy 13 in an Infant with a Mild Phenotype Application of Flourescence In Situ Hybridization in Cytogenetic Syndromes
(Phenotype Application of Flourescence In Situ Hybridization in Cytogenetic Syndromes)
Autori
Begović, Davor ; Hitrec, Vlasta ; Lasan, Ružica ; Letica, Ljiljana ; Barić, Ivo ; Sarnavka, Vladimir ; Galić, Slobodan
Izvornik
Croatian medical journal (0353-9504) 39
(1998), 2;
212-215
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
aneuploidy;banding chromosome;cytogenetics;FISH;trisomy 13
Sažetak
We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108141
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Ivo Barić
(autor)
Davor Begović
(autor)
Vladimir Sarnavka
(autor)
Ljiljana Letica
(autor)
Vlasta Hitrec
(autor)