Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication.

We describe an adult male with severe learning disability, epilepsy, and dysmorphic features. Cytogenetic studies demonstrated a terminal duplication of the long arm of chromosome 17, resulting in partial trisomy 17q24-q25. Our patient shows some of the characteristic features of the distal 17q phenotype, but in addition has more unusual features such as… CONTINUE READING