LD47.4
Autosomal fragile site
Sítio frágil em autossomos
CategoryDefinition
Any disease caused by presence of a fragile site on an autosome. These diseases may present as asymptomatic. Confirmation is through observation of a fragile site by genetic testing.
Index Terms
Autosomal fragile siteindividual with autosomal fragile siteautosomal fragile site syndromefragility non-sex chromosome site