Chromosome deletion
Chromosome Deletion
Chromosome deletion or partial monosomy is a genetic mutation that occurs when a part of a chromosome is missing or deleted.
Pronunciation
- Chromosome: /ˈkrəʊməsəʊm/
- Deletion: /dɪˈliːʃ(ə)n/
Etymology
The term "chromosome" comes from the Greek words "chroma" meaning color and "soma" meaning body. "Deletion" is derived from the Latin word "deletus," past participle of "delere" which means to destroy.
Overview
In a chromosome deletion, the absence of a particular segment from a chromosome can lead to a variety of genetic disorders. This is because the missing segment may contain genes that are crucial for normal development.
Causes
Chromosome deletions can occur spontaneously during the formation of gametes or as a result of exposure to certain environmental factors such as radiation or chemicals. They can also be inherited from a parent who carries a balanced translocation.
Symptoms
The symptoms of chromosome deletion syndromes can vary widely, depending on which genes are missing. Common symptoms can include developmental delay, intellectual disability, physical abnormalities, and health problems.
Diagnosis
Diagnosis of chromosome deletions typically involves genetic testing, including karyotyping and microarray analysis.
Treatment
There is currently no cure for chromosome deletions. Treatment typically focuses on managing symptoms and improving quality of life.
Related Terms
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