Malformations are a major cause of morbidity and mortality in full term infants and genomic imbalances are a significant component of their aetiology. However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations.
Service de Génétique Médicale, Institut de Biologie, Centre Hospitalier Universitaire, 9, quai Moncousu, 44093 Nantes Cedex, France. lecaignec@hotmail.com
