Abstract
Cytogenetics with banding techniques has, since the 1970s, identified patients with chromosome abnormalities and has contributed enormously to the understanding of phenotype-karyotype correlations. However, one chromosome band could contain 20-50 genes. Fluorescence in situ hybridization (FISH) bridges the gap in the area between the resolution obtained by conventional chromosome studies and purely DNA studies. Fluorescence in situ hybridization provides paediatricians with the ability to delve more deeply into the aetiology of congenital abnormalities in children. This annotation aims to clarify the current applications of FISH in paediatric practice.