RT Journal Article SR Electronic T1 Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 306 OP 308 DO 10.1136/jmg.32.4.306 VO 32 IS 4 A1 V P Prasher A1 E Roberts A1 A Norman A1 A C Butler A1 V H Krishnan A1 D J McMullan YR 1995 UL http://jmg.bmj.com/content/32/4/306.abstract AB 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.