The structural abnormality of chromosome in which one arm is lost and remaining arm is duplicated is called:
**Core Concept**
In genetics, isochromosome refers to a type of chromosomal abnormality where one arm of a chromosome is lost, and the remaining arm is duplicated. This results in an isochromosome, which has two identical arms but lacks the normal pairing of homologous chromosomes.
**Why the Correct Answer is Right**
Isochromosome formation occurs due to errors during cell division, particularly during meiosis or mitosis. When a chromosome fails to separate properly, one arm may be lost, and the other arm may be duplicated, leading to the formation of an isochromosome. This type of chromosomal abnormality can result in various genetic disorders, depending on the chromosome involved and the specific genes affected. Isochromosomes can be found in various chromosomes, but they are most commonly associated with chromosomes 2, 5, 7, 9, 11, 12, 14, 15, 21, and 22.
**Why Each Wrong Option is Incorrect**
* **Option A:** Ring chromosome refers to a type of chromosomal abnormality where a chromosome is broken and the broken ends fuse together, forming a ring-like structure. This is distinct from isochromosome formation.
* **Option C:** Translocation refers to the exchange of genetic material between two or more chromosomes. While translocations can result in chromosomal abnormalities, they do not involve the loss and duplication of an entire arm of a chromosome.
* **Option D:** Mutation refers to a change in the DNA sequence of a chromosome. While mutations can result in chromosomal abnormalities, the term is too broad to specifically describe the structural abnormality of a chromosome with one arm lost and the remaining arm duplicated.
**Clinical Pearl / High-Yield Fact**
Isochromosomes can be associated with various genetic disorders, including growth retardation, intellectual disability, and increased risk of cancer. It is essential for clinicians to be aware of the potential genetic consequences of isochromosome formation and to consider chromosomal analysis in patients with unexplained developmental delays or other systemic abnormalities.
**β Correct Answer: B. Isochromosome**