Cat eye syndrome
Other Names for this Disease
- Chromosome 22 partial tetrasomy
- INV DUP(22)(Q11)
- Schmid-Fraccaro syndrome
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Cat eye syndrome is most often caused by a chromosome abnormality called an inverted duplicated 22. In people with this condition, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of cat eye syndrome.
Last updated: 4/11/2015
- Chromosome 22. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/chromosome/22.