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Genetic aspects of birth defects: new understandings of old problems
  1. Katrina R Prescott1,
  2. Andrew O M Wilkie2
  1. 1Department of Clinical Genetics, Churchill Hospital, Oxford, UK
  2. 2Weatherall Institute of Molecular Medicine, University of Oxford, UK
  1. Correspondence to:
    Andrew O M Wilkie
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK; awilkie{at}


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.

  • CGH, comparative genomic hybridisation
  • FISH, fluorescence in-situ hybridisation
  • FGFR, fibroblast growth factor receptor
  • MCA/MR, multiple congenital abnormality/mental retardation
  • UPD, uniparental disomy
  • genetics
  • imprinting
  • microarray
  • microdeletion
  • mosaicism

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  • Funding: AW’s research is supported by the Wellcome Trust.

  • Competing interests: None.

  • Parental/guardian informed consent was obtained for the publication of figures 1, 3–5.