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Over the past two decades, combined advances in genetics, developmental biology and biochemistry have transformed the study of human birth defects. This review describes the importance of genome architecture, parent of origin effects (imprinting), molecular pathophysiology, developmental pathways, mosaicism and cancer predisposition syndromes in the understanding of birth defects. This knowledge can be applied to improve diagnostic accuracy, prognostic information, counselling and sometimes even treatment of these conditions.

Original publication

DOI

10.1136/adc.2004.062968

Type

Journal article

Journal

Arch Dis Child Fetal Neonatal Ed

Publication Date

07/2007

Volume

92

Pages

F308 - F314

Keywords

Abnormalities, Multiple, Chromosome Aberrations, Congenital Abnormalities, Genetic Predisposition to Disease, Genomic Imprinting, Humans, Infant, Newborn, Mosaicism, Mutation, Neoplasms, Syndrome