What Are the Genetic Disorders?

Aug 04, 2020 Source: Cainiu Health
Dr. Guo Tao
Introduction
What are the hereditary diseases? 1. Autosomal dominant inheritance: Examples include adult polycystic kidney disease and familial hypercholesterolemia. 2. Autosomal recessive inheritance: Examples include albinism and congenital deaf-mutism. 3. X-linked recessive inheritance: Examples include hemophilia and red-green color blindness. 4. Chromosomal translocation: Most cases are associated with severe physical disability or mental disorders.

Genetic disorders refer to diseases caused by alterations in genetic material or controlled by disease-causing genes. These disorders are fully or partially determined by genetic factors and are often congenital, though they may also manifest later in life. So, what are some examples of genetic disorders? The following section addresses this question.

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Examples of Genetic Disorders

1. Autosomal Dominant Inheritance

In this type of inheritance, males and females are affected with nearly equal frequency, and every generation may be involved. If either parent is affected, the disorder can be passed on to offspring. Common examples include adult polycystic kidney disease and familial hypercholesterolemia.

2. Autosomal Recessive Inheritance

Both parents must be carriers of the defective gene for the child to be affected. Common disorders include albinism, congenital deaf-mutism, thalassemia, cystic fibrosis, phenylketonuria (PKU), and galactosemia.

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3. X-Linked Recessive Inheritance

This pattern exhibits “skipped-generation” and “cross-over” inheritance, with significantly more male than female patients. Common examples include hemophilia, Duchenne muscular dystrophy, and red-green color blindness.

4. Chromosomal Translocation

When the total amount of genetic material remains unchanged, the translocation is termed “balanced,” and affected individuals typically remain asymptomatic. However, individuals with balanced translocations should seek genetic counseling before planning a pregnancy, as their offspring face an increased risk of “unbalanced” chromosomal arrangements—many of which are associated with severe physical disabilities or neuropsychiatric abnormalities.

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The above provides an overview of common genetic disorders. We hope this information is helpful to you.