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Genetic Syndromes

What causes genetic disorders?
Each cell in the human body contains 23 pairs of chromosomes. You inherit one set of the pair from your father and one set from your mother.  Each chromosome is made up of many genes, about 2,000 in each chromosome, for a total of 50,000 genes in each cell.  These genes make all the proteins in the body, which promote development and growth, and carry out all body functions.

When one or more of these genes or chromosomes are missing or mutated, or if extra chromosomes are present, the proteins may not get made, may be made incorrectly, or too many may be made.  Any of these situations can cause abnormal development and growth and can result in a genetic syndrome.  Sometimes these abnormal genes or chromosomes are passed down from a parent, and sometimes they occur spontaneously without reason.  

For help in understanding the terms used in genetics, see the talking glossary of genetic terms from the National Human Genome Research Institute.  Here, you can listen to detailed explanations of these complicated terms.

What are genetic syndromes?
A syndrome is a disease or disorder that has more than one identifying feature or symptom. Each particular genetic syndrome will have many typical features, depending on which aspects of development are affected by the abnormal genes or chromosomes.

A child might be born with obvious body deformities, abnormal organ function (for example:  heart, brain, gut, or kidney), or neurological problems (for example, when a baby’s body is floppy or the baby is unable to nurse or bottle feed).  However, many of the genetic syndromes start to take effect only once the baby has been born and is starting to feed and grow.  These babies may look and act entirely normal at birth, but then develop problems later on in life.

This is a big and complex topic, and we are learning more and more about genetic syndromes every day. 

How can I find out more to help me understand this stuff?
Here are some links to sites that explain more about genes and genetic syndromes:

What are genetic counseling and genetic testing?
Here are some links to more information on genetic counseling and genetic testing:

How can I find out more about specific genetic syndromes?

Are there any good books about genetic syndromes?

Genetics and Mental Retardation Syndromes: A New Look at Behavior and Interventions
by Elisabeth M. Dykens, Robert M. Hodapp, and Brenda M. Finucane. 

What are some other good general resources related to genetic syndromes?

Compiled by Kyla Boyse, R.N. Reviewed by faculty and staff at the University of Michigan

Updated March 2010


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