Chromosomal Abnormalities

Understanding Chromosomal Abnormalities

A chromosomal abnormality can impact your body’s systems. That includes the heart, kidneys, intestines, eyes and ears. Children tend to have developmental delays and mental and/or physical birth defects. Often, children with these conditions look different and may have shorter life spans.

Some of the more common genetic syndromes include:

• Trisomy 21 or Down syndrome
• Monosomy X or Turner syndrome
• Trisomy 18
• Trisomy 13
• 22q11.2 Deletion Syndrome (formerly referred to as DiGeorge syndrome)

For many, no treatment or cure exists. IU Health physicians treat some symptoms of chromosomal abnormalities with therapies and medicines.

Treatment

Specialists at IU Health can diagnose and/or treat conditions associated with chromosomal abnormalities. This team includes:

• Dietitians
• Occupational, physical and speech therapists
• Developmental pediatricians
• Neurologists
• Geneticists
• Mental health clinicians

If your physician refers your child for diagnosis of a genetic condition, your IU Health physicians will take an in-depth medical and family history. Your physician will perform a complete physical examination of your child. He or she will look for specific signs of a chromosomal abnormality.

Your physician will work hand-in-hand with genetic counselors. Together, they will help you understand the specific condition and available treatments. You and your child may work with the child development team and other specialists to better understand and access the full spectrum of care your child needs.

You'll have access to many experts in several fields. We have affiliations with IU School of Medicine Department of Pediatrics and the Developmental Pediatrics Department at Riley Hospital for Children at IU Health.

Our board-certified geneticists work with other physicians and counselors to improve your child’s quality of life.

Genetic Counseling

If test results indicate your child has a chromosomal abnormality, you meet with a genetic counselor. The counselor will explain:

• How chromosomal abnormalities occur
• Typical behavior for children with a specific condition
• How the abnormality will develop
• Which treatments and services can help

Genetic Testing

Based on your child’s diagnosis, we offer additional genetic testing for your family. Our diagnostic genomics labs can determine if other family members are at risk for specific conditions. They can also determine the chances of a condition being passed down to future generations.

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 abnormalities affect the way your child grows and processes the nutrients in their diets. In these instances, medicines and specific diets can improve your child’s functions and health. A registered dietitian will help you develop proper food choices.

Clinical Social Workers

These professionals are vital to managing your child’s care. Social workers assist you in finding the right 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. We'll describe the new condition for the larger medical community. If a patient has 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 them.