Deletions and Other Structural Abnormalities of the Autosomes

摘要: Enomic deletions and duplications cause disease when they involve a dosage-sensitive gene, the recent introduction of array-based diagnostic tests has greatly improved our ability to diagnose these genomic alterations. The past 5 years seen continued improvements in mapping critical regions for classic microdeletion duplication syndromes, identification new microduplication syndromes. In addition, utilization sequence information from Human Genome Project revealed underlying architecture that predisposes alterations some cases. this chapter we update summarize on chromosome translocations, uniparental disomy, associated with human disease.