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. 1995 Apr;32(4):306–308. 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 1, A Norman 1, A C Butler 1, V H Krishnan 1, D J McMullan 1
PMCID: PMC1050382  PMID: 7643363

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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