Familial mental retardation due to a cryptic subtelomeric translocation -del 14qter and dup 9qter (the Anyon phenotype)

Abstract

An example of familial mental retardation is described in which there is a distinctive phenotype. It consists of IQ in the 30–50 range, microcephaly, short stature, narrow skull, prominent ears and nose and a cryptic subtelomeric translocation resulting in del 14qter and dup 9qter. Variable features include congenital heart disease, peripheral neuropathy and epilepsy. The phenotype was described in 1965 by Anyon.