Cat eye syndrome

Not to be confused with Heterochromia, an optical condition which is commonly associated with cats.

Cat-eye syndrome
Other namesCES[1]
An example of the defect after which CES is named
SpecialtyMedical genetics Edit this on Wikidata
Frequency1 in 74,000

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]

  1. ^ "Cat eye syndrome". Orphanet. Retrieved 20 March 2019.
  2. ^ Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015). "Small supernumerary marker chromosomes and their correlation with specific syndromes". Advanced Biomedical Research. 4 (1): 140. doi:10.4103/2277-9175.161542. PMC 4544121. PMID 26322288.
  3. ^ Rosias PR, Sijstermans JM, Theunissen PM, et al. (2001). "Phenotypic variability of the cat eye syndrome. Case report and review of the literature". Genet. Couns. 12 (3): 273–82. PMID 11693792.
  4. ^ "Cat eye syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".