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A chromosome is a carrier of genetic information. Chromosomal abnormalities are genetic conditions that occur due to a problem with one of the 23 pairs of chromosomes. A chromosomal abnormality can affect the number of chromosomes, the structure of certain chromosomes or the composition of chromosomes.
There are several different genetic syndromes caused by missing or extra chromosomes, including:
- Trisomy 21 or Down syndrome
- Turner syndrome
- Trisomy 18
- Trisomy 13
In addition, there are many microdeletion and microduplication syndromes caused by small chromosomal changes, the most well known of which is 22 q11.2 deletion syndrome.
Chromosome abnormalities, depending on their size or location, can cause a variety of birth defects and dysmorphic facial features and growth and developmental delay.
Diagnosis of Chromosomal Abnormalities
Diagnosis of a chromosomal abnormality includes an in-depth look at your child's medical and family health history as well as a physical exam to look for specific indicators of a chromosomal abnormality followed by specific genetic testing.
If your child is diagnosed with a chromosomal abnormality, the doctor may recommend additional genetic testing to determine if other family members are at risk for specific conditions and to calculate the risk of a condition being passed down to future generations.
Treatments
Treatments
In many cases, there is no treatment or cure for chromosomal abnormalities. However, some interventions may include:
- Genetic counseling. If testing indicates your child has a chromosomal abnormality, you will meet with a genetic counselor who will explain the features of the condition, the short- and long-term features, what interventions may prove helpful and the risk of recurrence in additional family members.
- Occupational therapy. Your child may need help from an occupational therapist to learn certain skills of daily living, such as getting dressed, bathing, eating and school-related tasks like writing.
- Physical therapy. A physical therapist can help your child learn to build muscle strength, improve motor skills and accomplish more daily tasks.
- Cardiovascular medicines. For some chromosomal conditions, a cardiologist will prescribe medicines to prevent dilation (enlargement) of your child’s aorta and other blood vessels.
It is quite common for children with chromosome anomalies to either have birth defects or be at increased risk for future medical issues, including developmental delays. Patients are often seen by a number of specialty doctors at Riley at IU Health to ensure the best possible treatment is being provided for these various issues.
Key Points to Remember
Key Points to Remember
- Chromosomal abnormalities are genetic conditions that occur due to a problem with one of the 23 pairs of chromosomes.
- There are several different genetic syndromes caused by missing or extra chromosomes, including Down syndrome, Turner syndrome, trisomy 18 and trisomy 13.
- Chromosome abnormalities, depending on their size or location, can cause a variety of birth defects and dysmorphic facial features and growth and developmental delay.
- In many cases, there is no treatment or cure for chromosomal abnormalities. However, genetic counseling, occupational therapy, physical therapy and medicines may be recommended.
Support Services & Resources
Support Services & Resources
Visit the following websites to learn more about how chromosomal abnormalities are diagnosed and treated.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This U.S. National Library of Medicine website provides in-depth information about chromosomes and chromosome conditions.
This group assists individuals and families living with rare chromosomal abnormalities through education, advocacy, research and service.
Unique's mission is to educate and support those living with a chromosome disorder and raise public awareness.
This group strives to improve access to services for families of children with genetic conditions. Its website includes education for parents and professionals.
Chromosomal Abnormalities Research
Chromosomal Abnormalities Research
In partnership with the Indiana University School of Medicine, our doctors and researchers are doing clinical and basic science research to learn more about chromosomal abnormalities. When we see a family with a syndrome we cannot diagnose, we pursue additional testing and describe the new condition for the larger medical community. If a patient presents with a known condition but shows a different type of chromosomal or gene change, we research and publish those cases so others can learn about the novel gene change.
Locations
Locations
Locations
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.
Sort through 7 facilities offering Chromosomal Abnormalities care by entering your city or zip below.