Chromosomal Abnormalities

Genetic conditions due to problems with one of the chromosomes

A chromosome is a threadlike structure found in the nucleus of most living cells. It carries genetic information in the form of genes. If you have a chromosomal abnormality, you have a genetic condition due to a problem with one of the 23 pairs of your chromosomes.

This may be due to the number, structure or composition of your body’s chromosomes.

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.

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.

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.

    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.

      Patient Stories for 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.

      Genetics Home Reference

      This service of the U.S. National Library of Medicine offers an online guide to chromosomes and chromosomal abnormalities.

      Resources

      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.

      Genetics Home Reference

      This service of the U.S. National Library of Medicine offers an online guide to chromosomes and chromosomal abnormalities.