Chromosomal Theory of Inheritance and how chromosomal abnormalities can lead to genetic disorders.

Choose ONE genetic disorder that can be inherited from a parent. Write a 525- to 700-word paper on the genetic disorder. Include the following in your paper:
Summarize the Chromosomal Theory of Inheritance and how chromosomal abnormalities can lead to genetic disorders.
Describe the relationship between chromosomes and DNA.
Identify an example of a genetic disorder and describe the genetic disorder including symptoms, impact on quality of life, and life expectancy. How common is this disorder? Does it run in specific ethnic bloodlines?

Almost every cell in our body contains 23 pairs of chromosomes, for a total of 46 chromosomes. Half of the chromosomes come from our mother, and the other half come from our father. The first 22 pairs are called autosomes. The 23rd pair consists of the sex chromosomes, X and Y. Females usually have two X chromosomes, and males usually have one X and one Y chromosome in each cell. All of the information that the body needs to grow and develop comes from the chromosomes. Each chromosome contains thousands of genes, which make proteins that direct the body’s development, growth, and chemical reactions.

Many types of chromosomal abnormalities exist, but they can be categorized as either numerical or structural. Numerical abnormalities are whole chromosomes either missing from or extra to the normal pair. Structural abnormalities are when part of an individual chromosome is missing, extra, switched to another chromosome, or turned upside down.

Chromosomal abnormalities can occur as an accident when the egg or the sperm is formed or during the early developmental stages of the fetus. The age of the mother and certain environmental factors may play a role in the occurrence of genetic errors. Prenatal screening and testing can be performed to examine the chromosomes of the fetus and detect some, but not all, types of chromosomal abnormalities.

Chromosomal abnormalities can have many different effects, depending on the specific abnormality. For example, an extra copy of chromosome 21 causes Down syndrome (trisomy 21). Chromosomal abnormalities can also cause miscarriage, disease, or problems in growth or development.

Review information on genetic disorders on the National Human Genome Research Institute Site: http://www.genome.gov/.

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