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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 .
Cat eye syndrome critical region protein 1 is a protein that in humans is encoded by the CECR1 gene. [3] [4] This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein may act as a growth factor and have adenosine deaminase activity.
This chromosome can be found three or four times. This syndrome is referred as "cat eye" due to the eye appearance of reported affected individuals who have coloboma of the iris, but this feature is only seen in about half of the cases. Mosaic trisomy 22 [7] is a disorder in which an extra chromosome 22 is found only in some cells of the body ...
29-year-old Caitin Stickels, from Seattle, was born with Schmid-Fraccaro, also known as "Cat Eye Syndrome". The genetic disorder is known to cause an array of issues, the most visible of which ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Distal 18q-A 9-year-old girl with phenotypic features of De Grouchy syndrome TYPE I (Monosomy 18p or deletion 18p or 18p-). This image does not show the phenotypic features of distal 18q (de Grouchy Type 2), which are quite distinct from those of Monosomy 18p
Cat eyes are similar to brass knuckles but in the shape of a cat face, with sharp and pointy ears that act like small daggers to stab or gouge. People slip their fingers through the spaces of the ...
Acorea, microphthalmia and cataract syndrome; Acute idiopathic blind spot enlargement syndrome; Adie syndrome; Antley–Bixler syndrome; Aplasia cutis-myopia syndrome; Arterial tortuosity syndrome; Ascher's syndrome; Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; Axenfeld–Rieger syndrome