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Case Reports
. 1995 Apr;32(4):306-8.
doi: 10.1136/jmg.32.4.306.

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion

V P Prasher  1 , E Roberts, A Norman, A C Butler, V H Krishnan, D J McMullan
Affiliations
Case Reports

Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion

V P Prasher et al. J Med Genet. 1995 Apr.

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.

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