title: Dysmorphic features and learning disability in an adult male with pure partial trisomy 17q24-q25 due to a terminal duplication.
abstract: 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 epilepsy, sensorineural hearing loss, and long fingers and overlapping toes. We suggest that these features occur with terminal duplications of 17q.
authors.affiliation: Stewarts Hospital, Dublin, Ireland. brendan.kelly35@hotmail.com
authors.forename: Brendan D
authors.initials: BD
authors.lastname: Kelly
authors.forename: Kristin
authors.initials: K
authors.lastname: Becker
authors.forename: Victoria
authors.initials: V
authors.lastname: Kermode
authors.forename: Raymond L
authors.initials: RL
authors.lastname: Stallings
authors.forename: Raymond P
authors.initials: RP
authors.lastname: Murphy
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Green
authors.forename: John
authors.initials: J
authors.lastname: Hillery
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male