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Acta clinica Croatica, Vol. 45 No. 1 - Supplement 1, 2006.

Ostalo

Trisomy 8: A Case Report

Jadranka Lui-Peranić
Iskra Petković
Jadranka Sekelj-Fureš

Puni tekst: engleski pdf 1.097 Kb

str. 73-76

preuzimanja: 594

citiraj

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 skeletal system and urinary tract.

Ključne riječi

Abnormalities, multiple - genetics; Chromosomes, human - pair 8; Immunologic diseases - genetics; Mosaicism; Trisomy

Hrčak ID:

14089

URI

https://hrcak.srce.hr/14089

Datum izdavanja:

1.5.2006.

Podaci na drugim jezicima: hrvatski

Posjeta: 2.329 *