A chromosome abnormality is characterized by a morphological or numerical alteration in single or multiple chromosomes. Identification of key genes involved with chromosome abnormalities has provided a better understanding of etiologies and treatment insights. However, due to the heterogeneity of chromosome abnormalities, personalized treatment is required to truly impact quality of life. Early diagnosis of chromosome abnormalities is an essential first step to optimize management.
This program has been developed in collaboration with The Chromosome 18 Registry & Research Society.
