title: Evidence for inheritance in patients with VACTERL association.
abstract: VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA. solomonb@mail.nih.gov
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Daniel E
authors.initials: DE
authors.lastname: Pineda-Alvarez
authors.forename: Manu S
authors.initials: MS
authors.lastname: Raam
authors.forename: Derek A T
authors.initials: DA
authors.lastname: Cummings
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology* / Q000235:genetics*; D005190:Family; D005260:Female; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D008297:Male; D015995:Prevalence