title: Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability.
authors.affiliation: Institute of Human Genetics, Medical University of Graz, Graz, Austria. k.orendi@medunigraz.at
authors.forename: Kristina
authors.initials: K
authors.lastname: Orendi
authors.forename: Sabine
authors.initials: S
authors.lastname: Uhrig
authors.forename: Monika
authors.initials: M
authors.lastname: Mach
authors.forename: Petra
authors.initials: P
authors.lastname: Tschepper
authors.forename: Michael R
authors.initials: MR
authors.lastname: Speicher
mesh_terms: D000328:Adult; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004569:Electroencephalography; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D000077213:Lamotrigine; D008297:Male; D014227:Triazines / Q000627:therapeutic use; D014314:Trisomy / Q000235:genetics*
chemical_list: D014227:Triazines; D000077213:Lamotrigine