Pregled bibliografske jedinice broj: 286351
Trisomy 8: a case report
Trisomy 8: a case report // Acta Clinica Croatica, 45 (2006), Suppl. 1; 73-76 (podatak o recenziji nije dostupan, članak, stručni)
CROSBI ID: 286351 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Trisomy 8: a case report
Autori
Lui-Peranić, Jadranka ; Petković, Iskra ; Sekelj-Fureš, Jadranka
Izvornik
Acta Clinica Croatica (0353-9474) 45
(2006), Suppl. 1;
73-76
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni
Ključne riječi
abnormalities; multiple-genetics; chromosomes
Sažetak
An 8-month-old infant with trisomy 8 mosaicism is described. Chromosome 8 trisomy was present in 36% of cells. Clinical characteristics were so typical that cytogenetic analysis only confirmed the diagnosis. Deep skin furrows on the palms and soles were the most pronounced phenotype characteristics, whereas most numerous alterations were those involving skeltal system and urinary tract.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
0072331
Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta
Profili:
Iskra Petković
(autor)
Citiraj ovu publikaciju:
Uključenost u ostale bibliografske baze podataka::
- Excerpta Medica