How We Can Help
Chromosomal Abnormalities Treatment Information
We are experts in treating and managing the symptoms that come with chromosomal abnormalities. At IU Health Medical Genetics, our board-certified geneticists work with other physicians and counselors to collaborate on a multidisciplinary program to improve your child’s quality of life.
- Genetic counseling. If testing indicates your child has a chromosomal abnormality, you meet with a genetic counselor who explains how chromosomal abnormalities happen, what children with a specific condition are like, how they develop, and which treatments and services are helpful. You may meet with the counselor at a clinic operated by the IU Division of Clinical and Biochemical Genetics.
- Genetic testing. Based on your child’s diagnosis, we offer additional genetic testing for your family. Our Clinical Laboratory Improvement Amendments-certified diagnostic genomics labs can determine if other family members are at risk for specific conditions or the chances of a condition being passed down to future generations.
- Occupational therapy. Your child may need help from an occupational therapist to learn certain skills of daily living, such as getting dressed, bathing and eating.
- Physical therapy. A physical therapist can help your child learn to build strength in bones and muscles, improve motor skills and accomplish more tasks.
- Cardiovascular medicines. For some metabolic conditions, a cardiologist prescribes medicines to prevent dilation (enlargement) of your child’s aorta and other blood vessels.
- Nutrition. Some chromosomal abnormalities affect the way your child grows and processes the nutrients in their diets. In these instances, special therapies with medicines and specific diets can improve your child’s functions and health. A registered dietitian recommends proper nutritional intake.
- Clinical Social Workers. These professionals are vital to managing your child’s care. Social workers assist you in finding the right medical specialists, making accommodations for your child at school and accessing disability services.
- Genetics research. There is clinical and basic science research underway to learn more about chromosomal abnormalities. At IU Health, 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 that others can learn about the novel mutation.
Chromosomal Abnormalities Locations & Physicians
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Chromosomal Abnormalities Support Services
Learn more about chromosomal abnormalities treatments at these websites:
A Sampling of Chromosomal Abnormalities Support Services
Indiana University Health Developmental Pediatrics
This department within Riley Hospital for Children at IU Health diagnoses and treats developmental disorders including Down syndrome and other chromosomal abnormalities.
Down Syndrome Indiana
This nonprofit works to improve the lives of people with Down syndrome and their families through advocacy, activities, resources and support groups.
National Organization for Rare Disorders
This group assists individuals and families dealing with rare chromosomal abnormalities by working to identify, treat and cure rare disorders through programs of education, advocacy, research and service.
This is a resource about chromosomal abnormalities that are the result of a deletion or duplication. Unique works to understand the less-frequent chromosomal conditions.
Genetics Home Reference
This service of the U.S. National Library of Medicine offers an online guide to chromosomes and chromosomal abnormalities.