TY - JOUR T1 - Genetic aspects of birth defects: new understandings of old problems JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed SP - F308 LP - F314 DO - 10.1136/adc.2004.062968 VL - 92 IS - 4 AU - Katrina R Prescott AU - Andrew O M Wilkie Y1 - 2007/07/01 UR - http://fn.bmj.com/content/92/4/F308.abstract N2 - 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. ER -