Evidence for inheritance in patients with VACTERL association.
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.
Solomon
Benjamin D
BD
Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA. solomonb@mail.nih.gov
Pineda-Alvarez
Daniel E
DE
Raam
Manu S
MS
Cummings
Derek A T
DA
D000015:Abnormalities, Multiple / Q000453:epidemiology* / Q000235:genetics*; D005190:Family; D005260:Female; D005820:Genetic Testing; D040941:Heredity; D006801:Humans; D008297:Male; D015995:Prevalence