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J Med Genet. 1995 Apr;32(4):306-8.

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

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  • 1Department 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.

PMID:
7643363
[PubMed - indexed for MEDLINE]
PMCID:
PMC1050382
Free PMC Article
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