Molecular(cyto)genetics
Chromosomal changes play an important role in children born with complex disorders. The identification of new (cryptic) abnormalities in children with multiple congenital anomalies as Esophageal Atresia , Diaphragmatic Hernia and or Congenital Heart Defects lead to the characterization of these genetic changes, their clinical relevance for diagnosis and treatment and the mechanisms in the etiology of congenital malformations.
To integrate the data from multiple platforms (high through put expression , BAC, Oligo or SNP arrays) display validation techniques as O-PCR, FISH and karyotype we are developing a sophisticated 3D viewer.