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Chromosome Abnormalities, Genetic/Genomic Syndromes, and Epigenetic Disorders

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Cytogenetic abnormalities, which may include trisomy (such as Down syndrome), mosaicism, or chromosome rearrangements, such as deletions or duplications, cause a significant proportion of cognitive impairment and morbidity and mortality, especially among infants and children. 

Recent advances in high-resolution cytogenomic analysis and the development of the molecular cytogenetics field, mainly through the application of fluorescence in situ hybridization and array-comparative genomic hybridization (CGH), provide opportunities for identifying subtle chromosomal rearrangements, such as cryptic deletions or duplications, in individuals with IDD or genetic syndromes.  Other genetic syndromes may be caused by mutations in single genes or by other, as yet unknown, genetic or epigenetic (resulting from changes in the regulation of gene activity and expression not dependent on gene sequence) mechanisms. 

Studies of genetics, epigenetics, and genomics are a core portion of the IDDB portfolio and represent exciting new areas of research for the NICHD.​​​

Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology