title: Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
abstract: A case of a 27 year old male with a duplication of part of the long arm of chromosome 22 (22q11.2-q13.1) together with a pericentric inversion of the same chromosome is reported. Particular phenotypic features of note include absence of speech, persistent self-injury, lack of daily living skills, colobomata, and very poor vision. Similarities between this case and other case reports of duplications of the long arm of chromosome 22 are discussed.
authors.affiliation: Department of Psychiatry, University of Birmingham, Queen Elizabeth Psychiatric Hospital, Edgbaston, UK.
authors.forename: V P
authors.initials: VP
authors.lastname: Prasher
authors.forename: E
authors.initials: E
authors.lastname: Roberts
authors.forename: A
authors.initials: A
authors.lastname: Norman
authors.forename: A C
authors.initials: AC
authors.lastname: Butler
authors.forename: V H
authors.initials: VH
authors.lastname: Krishnan
authors.forename: D J
authors.initials: DJ
authors.lastname: McMullan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002478:Cells, Cultured; D002871:Chromosome Banding / Q000379:methods; D007446:Chromosome Inversion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008214:Lymphocytes / Q000187:drug effects / Q000502:physiology; D008297:Male; D010835:Phytohemagglutinins / Q000494:pharmacology; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics*
chemical_list: D010835:Phytohemagglutinins