Ocena znaczenia klinicznego submikroskopowych duplikacji chromosomowych u pacjentów z opóźnieniem rozwoju i cechami dysmorfii

The explanation of the genetic basis of phenotypic abnormalities ascertained in patients with an abnormal karyotype is a multistep process and requires the use of various techniques for genome analysis. The evaluation of microduplications' clinical significance is complicated due to very few reports of such syndromes as well as only a few molecular studies on the functions and interactions of expression products of genes in the area of chromosomal rearrangement.