Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.
case_report · Level V
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- Record sourced from PubMed, PMID 7643363.
- Also identified by PMC identifier 1050382.
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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.
Medical subject headings
- Abnormalities, Multiple
- Chromosome Inversion
- Chromosomes, Human, Pair 22
- Intellectual Disability
- Trisomy