Sestre Milosrdnice University hospital and Institute of Clinical Medical Research
Abstract
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 skeletal system and urinary tract.Prikazuje se osmomjesečno dojenče s mozaicizmom trisomije 8, kod kojega je trisomija kromosoma 8 bila prisutna u 36% stanica. Kliničke značajke bile su tako znakovite da je citogenetska analiza samo potvrdila dijagnozu. Od fenotipskih oznaka naročito su se isticale duboke brazde dlanova i tabana, a najbrojnije promjene bile su na koštanom i mokraćnom sustavu
