Duplication 18p with mild influence on the phenotype

Abstract

Duplication 18p was found in a 12-year-old girl whose father carried a balanced translocation involving the same chromosome segment, t(18;21)(p11;p11). Our patient had delayed speech development, mild psychomotor retardation, epilepsy, and minor anomalies, including a low nasal bridge, anti-mongolian eye slant, low-set ears, and narrowly arched palate. These findings are compared with eight previously published cases.