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Trisomy 8: A Case Report
Jadranka Lui-Peranić
Iskra Petković
Jadranka Sekelj-Fureš
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.
Keywords
Abnormalities, multiple - genetics; Chromosomes, human - pair 8; Immunologic diseases - genetics; Mosaicism; Trisomy
Hrčak ID:
14089
URI
Publication date:
1.5.2006.
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