Genetic aspects of congenital malformations

Ninety percent of congenital malformations are wholly or partly genetic in aetiology. They may arise from single gene mutations, multifactorial inheritance or chromosomal abnormalities. The single gene malformation syndromes are especially important to identify as they may carry a high recurrence risk. Further understanding of the genetic mechanisms of human malformation may come from high resolution cytogenetics and the recombinant DNA technology. One particularly exciting new development is the sequencing of genes responsible for embryological development in lower animals and finding that homologous gene sequences are also present in man.