Cat Eye Syndrome Type 1 ~ The name cat eye syndrome is derived from a distinctive eye ocular abnormality that is present in a little over half affected individuals. The phenotype was atypical and included a severe developmental delay. While fur color has little to do with eye color breed certainly may. C0265493 A rare genetic syndrome caused by abnormalities of chromosome 22. 2122019 Also known by the term Schmid-Fraccaro syndrome cat eye syndrome is a rare condition. Cat eyes can come in a variety of colors. Cat eye syndrome CES is a rare chromosomal disorder with a highly variable clinical presentation. A type of genetic disorder the chromosome abnormality can affect the eyes ears kidneys and heart. 11282018 Cat eye syndrome CES also known as Schmid-Fraccaro syndrome is a very rare genetic disorder thats usually evident at birth. The condition is caused by the short arm p and a small section of the long arm q of human chromosome 22. Indeed recently is being sought by consumers around us, perhaps one of you personally. People now are accustomed to using the internet in gadgets to see video and image data for inspiration, and according to the title of the article I will talk about about Cat Eye Syndrome Type 1. The phenotype was atypical and included a severe developmental delay. 500001150000 1. 3102021 Cat eye color is due to the presence of melanin which itself is the result of genetics. Frequent contributors are illness trauma and adverse effects from drugs. Systemic disease affecting a number of body organs. Cat eye syndrome CES also known as Schmid-Fraccaro syndrome is a rare disorder that affects only 1 in every 50000 to 150000 people in the world 1. Intellectual disability is usually mild or borderline normal. The eye is blueish as it first starts to develop gradually becoming the final adult color at three months. 2122019 Also known by the term Schmid-Fraccaro syndrome cat eye syndrome is a rare condition. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes ears anal region heart andor kidney.
Its caused by a problem with a chromosome so people are born with it. Feline herpesvirus FHV FHV-1 or cat flu. We have found that the duplication breakpoints are clustered in two intervals.
The more proximal most common interval is the 450-650 kb region between D22S427 and D22S36 which corresponds to the proximal deletion breakpoint interval found in the 22q11 deletion syndrome DiGeorgevelocardiofacial syndrome.
Here we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The supernumerary cat eye syndrome CES chromosome is dicentric containing two copies of 22pter--q112. 2132006 Cat eye syndrome CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula downslanting palpebral fissures preauricular tags andor pits frequent occurrence of heart and renal malformations. The name cat eye syndrome is derived from a distinctive eye ocular abnormality that is present in a little over half affected individuals.