Cat eye syndrome

by Victoria

Cat eye syndrome

Cat eye syndrome is rare chromosome disorder disease. It is caused by duplicated genetic material contained on chromosomes 22 so this means that the person with the syndrome has one or two extra copies of specific DNA sequences from this chromosome. This diseases is caused by mutation.

Symtoms

-Slowed growth before birth

-Ranging mental deficiency

-Malformations of nearly any organs

-Downward slanting eyelids

-Wide set eyes

-Misshapen ears

-Bilateral coloboma- lack of ocular tissue (cat eye )

How is it inherited?

Resources disagree about the inheritance of this syndrome, and I don't know the answer for this, so I thought cat eye syndrome doesn't passed through the family. Because cat eye syndrome is caused by a extra copy of chromosome 22, so the affected individual has two copies of chromosome 22. As a result, it doesn't really fit into dominant or recessive, because the parent cell doesn't carry extra copy of chromosome 22 during meiosis.

What population is affected?

The population that is affected by this syndrome is babies, because the disease is already determined before they were born from mutation. It is measured that one child per 50,000-150,000 is born with the cat eye syndrome. It doesn't affect one race or gender heavily. Anyone be a candidate for this syndrome, because it occurs in any gender or race. individual can have children in the future, and there is no risk passing to those children.

Are there prenatal tests for this disorder?

It is not a trait passed from heredity and it this disorder is caused by copies of chromosomes during meiosis, so there is way for prenatal test for this disorder.

Could this disorder have been prevented?

There is no prevention for this syndrome, because there is no associated phenotype. Extra parent guidance is needed to the affected child with medical assistance, because it affects eye, ears, and other parts of body. There is no cure for this disorder, but there are treatments to help the diaereses such as getting a eye surgery, or taking medicines. Further assistance will be needed as the child grow, because this diseases last life time, it affects the organs, and there is no cure for it. The current status of the research of this disorder seems like they won't really have a cure coming soon, because this disease is already developed before the affected baby is born.

Other common names for this syndrome

-CES
-Chromosome 22, Inverted Duplication (22pter-22q11)

-Schmid-Fraccaro Syndrome