The importance of classical cytogenetic examination in clinical paediatric practice: analysis of 384 indications
2014
Abstract
Numerical and structural chromosomal abnormalities represent an important group of pathologic conditions in paediatrics. The basic investigation method is the classical cytogenetic examination under the light microscope.
During the 2010-2012 time period the classical cytogenetic examination was performed in 384 children (204 boys and 180 girls). Pathologic chromosomal abnormality was identified in 35 children (9.1%).
The most frequent indication for karyotyping was presence of congenital anomaly (34.6% of cases) followed by psychomotor and/or mental retardation (33.3% of cases). Classical cytogenetic examination remains in the position of one of the most frequently performed genetic examinations in paediatrics.