Chromosome abnormality
Chromosome Abnormality
A Chromosome Abnormality (pronounced: kroh-muh-sohm ab-nor-mal-i-tee) is a condition that occurs when there is an irregularity in the number or structure of chromosomes. The term is derived from the Greek words "chroma" meaning color and "soma" meaning body, referring to the colored bodies seen under a microscope.
Types of Chromosome Abnormalities
There are two main types of chromosome abnormalities: numerical and structural.
- Numerical Abnormalities occur when an individual is either missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair. Examples include Down Syndrome, Turner Syndrome, and Klinefelter Syndrome.
- Structural Abnormalities occur when the chromosome's structure is altered. This can take several forms, including deletions, duplications, inversions, and translocations. Examples include Cri-du-chat Syndrome (deletion), Charcot-Marie-Tooth disease (duplication), Paracentric inversion, and Philadelphia chromosome (translocation).
Causes
Chromosome abnormalities can be inherited from a parent or acquired due to errors in cell division. Factors that increase the risk of chromosome abnormalities include parental age, exposure to radiation or certain chemicals, and a history of chromosome abnormalities in previous pregnancies.
Diagnosis and Treatment
Diagnosis of chromosome abnormalities typically involves genetic testing, including karyotyping and fluorescent in situ hybridization (FISH). Treatment varies depending on the specific abnormality and its effects. It may include medical care to manage symptoms, surgical interventions, physical therapy, and genetic counseling.
See Also
References
External links
- Medical encyclopedia article on Chromosome abnormality
- Wikipedia's article - Chromosome abnormality
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