Translocations

Definition

Translocations are chromosomal abnormalities where a segment of one chromosome is transferred to another chromosome. This can disrupt gene function and lead to inherited disorders or cancers.

5 Must Know Facts For Your Next Test

1. Translocations can be reciprocal, involving an exchange between two chromosomes, or non-reciprocal, where one segment is transferred without any exchange.
2. They can be balanced, not resulting in genetic information loss or gain, or unbalanced, leading to genetic material duplication or deletion.
3. Chronic Myelogenous Leukemia (CML) is often associated with a specific translocation between chromosomes 9 and 22, known as the Philadelphia chromosome.
4. Translocations are detected using techniques like karyotyping and fluorescence in situ hybridization (FISH).
5. De novo translocations occur spontaneously and are not inherited from parents.

Related terms

Karyotype:

The complete set of chromosomes in a cell, used for diagnosing chromosomal abnormalities.

Fluorescence In Situ Hybridization (FISH): A technique that uses fluorescent probes to detect specific DNA sequences on chromosomes.

Philadelphia Chromosome: A specific chromosomal abnormality involving a translocation between chromosomes 9 and 22, commonly associated with chronic myelogenous leukemia.