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Research Article
Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
  1. V P Prasher,
  2. E Roberts,
  3. A Norman,
  4. A C Butler,
  5. V H Krishnan,
  6. D J McMullan
  1. Department of Psychiatry, University of Birmingham, Queen Elizabeth Psychiatric Hospital, Edgbaston, UK.

    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.

    https://doi.org/10.1136/jmg.32.4.306

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