Cat eye syndrome is –
**Cat Eye Syndrome**
### **Core Concept**
Cat Eye syndrome is a rare chromosomal disorder characterized by an abnormality of chromosome 22, resulting in a deletion or duplication of genetic material. This condition is associated with a range of physical and developmental abnormalities. The deletion or duplication of chromosome 22 affects the expression of genes involved in growth, development, and organ formation.
### **Why the Correct Answer is Right**
The correct answer is related to the genetic basis of Cat Eye syndrome. The condition is caused by an abnormality of chromosome 22, specifically a deletion or duplication of genetic material. This leads to the underexpression or overexpression of genes involved in growth and development, resulting in the characteristic physical and developmental abnormalities seen in Cat Eye syndrome. The affected genes on chromosome 22 are involved in the regulation of cell growth, differentiation, and patterning.
### **Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not accurately describe the genetic basis of Cat Eye syndrome.
**Option B:** This option is incorrect because it is not a recognized or established cause of Cat Eye syndrome.
**Option C:** This option is incorrect because it is not a specific or accurate description of the chromosomal abnormality associated with Cat Eye syndrome.
### **Clinical Pearl / High-Yield Fact**
Cat Eye syndrome is a rare chromosomal disorder with a range of physical and developmental abnormalities. It is essential for clinicians to recognize the characteristic features of the condition, including microphthalmia, coloboma, and cardiac abnormalities, to provide accurate diagnosis and management.
### **Correct Answer:** C. A chromosomal abnormality involving a deletion or duplication of genetic material on chromosome 22.