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Cat eye syndrome
Genetic partial duplication of chromosome 22 / From Wikipedia, the free encyclopedia
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Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome.[2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22. In consequence, individuals with the cat-eye syndrome have three (trisomic) or four (tetrasomic) copies of the genetic material contained in the abnormal chromosome instead of the normal two copies.[3] The prognosis for patients with CES varies depending on the severity of the condition and their associated signs and symptoms, especially when heart or kidney abnormalities are seen.[4]
Cat-eye syndrome | |
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Other names | CES[1] |
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An example of the defect after which CES is named | |
Specialty | Medical genetics ![]() |
Frequency | 1 in 74,000 |