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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.
Fryns-Aftimos syndrome is a genetic conditions that presents with a multitude of varying signs, symptoms and characteristics facies. Commonly characterized by hypertelorism, congenital nonmyopathic ptosis, iris or retinal coloboma, deafness, epilepsy, and pachygyria. [5]
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.
3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005. This syndrome was first described in 2005. [ 1 ] [ 2 ]
"Cat eyes" according to TSA, are weapons designed to look like cats that would fall in a similar category as brass knuckles. 'Cat eyes' banned: TSA urges passengers to keep weapons out of carry ...
Chromosome 16. Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common autosomal trisomy leading to miscarriage, and the second most common chromosomal cause (closely following X-chromosome monosomy). [2]