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Cat-eye syndrome (CES)
Relevant markers:
Accessory auricle/tagAnal atresiaAtrial septal defect (ASD)MicrocephalySmall/short ear/sDilated coronary sinusParents markers:Ano-rectumEarsGenitourinaryHeartKidneysTotal anomalous pulmonary venous drainage (TAPVD)Ventricular septal defect (VSD)
Incidence: 1/100000 — 9/100000 Involved genes:
(gene — definition — chromosome)22q11 invesion and duplication Inheritance mode: Sporadic (new mutation) Other online databases: OrphaNet, OMIM, Geneva Foundation, Jablonski's Database References: 2004 Ultrasound Obstet Gynecol Case report Read on PubMed 2010 J Korean Med Sci Case report Read on PubMed 2013 Gene Case report Read on PubMed Login for more details.