Life SciencesCardiologyGeneticsCardiovascular GeneticsHuman GeneticsMedical GeneticsCongenital AnomaliesCongenital Disorder EpidemiologyCongenital DisordersCongenital MalformationsGenetic DisordersGenetic SyndromesBirth Prevalence EstimationCongenital Cardiac AnomaliesCongenital Cardiovascular MalformationsCongenital Limb MalformationsCongenital Malformation RegistriesEtiology Of Congenital AnomaliesMutation Rate DeterminationPrevalence Estimation
Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).