Affordable Access

Trisomija 8: prikaz bolesnika

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

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.

There are no comments yet on this publication. Be the first to share your thoughts.