Genetic anomalies cover a range of conditions that refer to abnormalities in the genetic material of individuals. These anomalies usually occur in chromosomes and cause various genetic diseases. Chromosomal diseases occur as a result of changes in the structure or number of genetic material. They can affect individuals’ quality of life. In this article, we will examine in detail the mechanisms, symptoms and effects of genetic anomalies, especially those that lead to chromosomal diseases.
What are Genetic Anomalies and Chromosomal Diseases?
Genetic anomalies refer to abnormalities that occur in the genetic material of individuals. These anomalies usually occur in chromosomes and lead to various chromosomal diseases.
Trisomy and Monosomy: Changes in the Number of Chromosomes
Trisomy refers to the presence of three chromosomes in a chromosome pair. Monosomy refers to the situation where one chromosome is missing. These conditions can cause diseases such as Down syndrome.
Chromosome Deletion and Duplication: Abnormalities in the Structure of Genetic Material
Chromosome deletion refers to the situation where some of the genetic material is missing. Duplication is a situation where a part of the genetic material is excessive. These abnormalities may underlie various genetic diseases.
Chromosome Translocation: Switching Places of Chromosomes
Chromosome translocation refers to the connection or replacement of chromosomes with another chromosome. This condition can cause various genetic diseases and lead to genetic transmission within families.
Symptoms and Effects of Chromosomal Diseases
Symptoms of chromosome diseases vary depending on the type of disease. A wide range of physical, mental and developmental symptoms may be present. These symptoms often affect the individual’s quality of life.
Genetic Counseling and Early Diagnosis
Genetic counseling is a service that helps individuals assess their genetic risks and understand chromosomal diseases. Early diagnosis enables the detection of chromosomal diseases through tests performed during pregnancy.
Genetic Anomalies and Social Awareness
Chromosomal diseases caused by genetic anomalies are better understood and managed with modern medicine and genetic research. Thanks to social awareness and genetic counseling, individuals’ genetic risks are evaluated more effectively.