RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP F308
OP F314
DO 10.1136/adc.2004.062968
VO 92
IS 4
A1 Prescott, Katrina R
A1 Wilkie, Andrew O M
YR 2007
UL http://fn.bmj.com/content/92/4/F308.abstract
AB 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.