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Trisomija 8: prikaz bolesnika

Sestre Milosrdnice University hospital and Institute of Clinical Medical Research; [email protected]
Publication Date
  • Abnormalities
  • Multiple - Genetics
  • Chromosomes
  • Human - Pair 8
  • Immunologic Diseases - Genetics
  • Mosaicism
  • Trisomy
  • Nenormalnosti
  • Višestruke - Genetika
  • Kromosomi
  • Ljudski - Par 8
  • Imune Bolesti - Genetika
  • Mozaicizam
  • Trisomija
  • Medicine


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.

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