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Cytogenetic variants in clinical paeditrics practice

Publication at First Faculty of Medicine |
2012

Abstract

Pediatricians are confronted with results of prenatally indicated and performed cytogenetic examinations. However, besides the basic chromosomal abnormalities (numerical or structural aberrations) there are many benign cytogenetic findings - so called chromosomal variants (heteromorphisms).

The notation of a karyotype including one of these variants, often without any comments, can be a bit confusing for indicating pediatrician. Or even worse, it can cause inappropriate anxiosity in children’s parents in case the clinical value of this variant is not properly explained to them.