Associate Professor of Pathology; Secondary Appointment in Institute of Genetic Medicine
Cytogenetic analysis is an important tool to diagnose individuals with developmental delay with or without dysmorphic features. My clinical research focuses on cytogenetics, including classical techniques, SNP array and fluorescence in situ hybridization, to identify new microdeletion and microduplication syndromes. Once detected in several individuals we can delineate the phenotypic spectrum associated with the chromosome abnormality. The use of microarray allows a correlation at the molecular level where candidate genes associated with the phenotype can be recognized. The direct application of this research is increased number of clinical diagnosis achieved and availability of better prognostic information to individuals and families carrying these genetic syndromes.