TY - JOUR 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 SP - 306 LP - 308 DO - 10.1136/jmg.32.4.306 VL - 32 IS - 4 AU - V P Prasher AU - E Roberts AU - A Norman AU - A C Butler AU - V H Krishnan AU - D J McMullan Y1 - 1995/04/01 UR - http://jmg.bmj.com/content/32/4/306.abstract N2 - 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. ER -