• Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting
• Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication
• High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q
• Humoral deficiency in three paediatric patients with genetic diseases
• Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome
• Pure trisomy 19p syndrome in an infant with an extra ring chromosome