Cat Eye Syndrome

Common Name(s)

Cat Eye Syndrome, Cat-Eye Syndrome

Cat Eye syndrome is a rare condition with widely variable features including structural defects of the iris of the eye (coloboma), skin tags near the ear, narrowing or closure of the anus (atresia), defects of the heart or kidneys, and intellectual disability.  It occurs when an individual inherits extra genetic material from chromosome 22, known as a marker chromosome, from a parent.  The marker chromosome generally arises by chance in the parent, though inheritance from an affected parent directly to a child has been observed.  The diagnosis of Cat Eye syndrome depends on finding a marker chromosome by genetic testing.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cat Eye Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cat Eye Syndrome" returned 20 free, full-text research articles on human participants. First 3 results:

[Cat eye syndrome].
 

Author(s): D Bremond-Gignac, G Morin, G Jedraszak, A Receveur, J Rochette, H Copin

Journal: J Fr Ophtalmol. 2015 Apr;38(4):368-9.

 

Last Updated: 31 Dec 1969

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Cat eye syndrome.
 

Author(s): Deepak Sharma, Srinivas Murki, Tejo Pratap, Madhavi Vasikarla

Journal:

 

A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. ...

Last Updated: 31 Dec 1969

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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
 

Author(s): Jeroen Knijnenburg, Yolande van Bever, Lorette O M Hulsman, Chantal A P van Kempen, Galhana M Bolman, Rosa Laura E van Loon, H Berna Beverloo, Laura J C M van Zutven

Journal: Eur. J. Hum. Genet.. 2012 Sep;20(9):986-9.

 

Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cat Eye Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome.
 

Author(s): M Meins, P Burfeind, S Motsch, R Trappe, D Bartmus, S Langer, M R Speicher, H Mühlendyck, I Bartels, B Zoll

Journal: J. Med. Genet.. 2003 May;40(5):e62.

 

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.