Skip to Main Content
Hospital Visitor Guidelines

Riley Children's Health has implemented hospital inpatient visitor restrictions to protect patients and help prevent the spread of respiratory viruses. View full details for Riley Hospital for Children at IU Health and Riley Children's Health at IU Health North.

Mobile sized logo
  • 317.944.5000
    • Schedule an Appointment
    • Refer a Patient
    • Plan My Visit
    • Pay a Bill
    • Make a Donation
    • Volunteer
    • Find a Career
    • Health Information
    • Find a Doctor
    • Departments & Programs
    • Support Services
    • Contact & Locations
    • Refer a Patient
    • My IU Health Patient Portal
  • Search
Riley Children's Health
  • 317.944.5000
  • My IU Health Patient Portal
    • Schedule an Appointment
    • Refer a Patient
    • Plan My Visit
    • Pay a Bill
    • Make a Donation
    • Volunteer
    • Find a Career
  • Search
Search
    • Schedule an Appointment
    • Refer a Patient
    • Plan My Visit
    • Pay a Bill
    • Make a Donation
    • Volunteer
    • Find a Career
  • Health Information
  • Find a Doctor
  • Departments & Programs
  • Support Services
  • Contact & Locations
  • My IU Health Patient Portal
  • General Information
    317.944.5000
  • Health Information
  • Find a Doctor
  • Departments & Programs
  • Support Services
  • Contact & Locations
Riley Children's Health

Chromosomal Abnormalities

Chromosomal Abnormalities
  • Find a Doctor
  • On This Page:
  • Treatments
  • Key Points to Remember
  • Support Services & Resources
  • Research & Clinical Trials
  • Locations
  • Departments Treating This Condition
  • Related Stories
Go back to the top of the page

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.

We offer a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

Genetics Home Reference

This U.S. National Library of Medicine website provides in-depth information about chromosomes and chromosome conditions.

National Organization for Rare Disorders

This group assists individuals and families living with rare chromosomal abnormalities through education, advocacy, research and service.

Unique

Unique's mission is to educate and support those living with a chromosome disorder and raise public awareness.

Midwest Genetics Network

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 4 facilities offering Chromosomal Abnormalities care by entering your city or zip below.

See all facilities →

Departments Treating This Condition

Departments Treating This Condition

  • Cardiology
  • Medical & Molecular Genetics

Related Stories

Related Stories

Blog Ryder Johnson

Riley wraps its arms around one little boy with a rare condition

08/18/24 Patient Stories

“He’s such a special kid, kind of heroic in his own way.” -- Ryder Johnson suffers from an extremely rare genetic mutation that compromises his growth and development, but he doesn’t let that steal his joy.

Continue reading
Riley Children's Health Indiana University School of Medicine
Designated as Best Children's Hospitals by U.S. News & World Report, Ranked in 10 Specialties in 2023-24

©2025 Riley Hospital for Children at
Indiana University Health
Find adult services at iuhealth.org

Get Informed

  • About Riley Children's Health
  • Research & Innovation
  • Health Professionals
  • Medical Education
  • Newsroom
  • Riley Connections Blog
  • Legal Notices

I Want To…

  • Schedule an Appointment
  • Refer a Patient
  • Plan My Visit
  • Pay a Bill
  • Make a Donation
  • Volunteer
  • Find a Career

General Information

317.944.5000

Connect with Riley Children's Health

  • Facebook
  • Youtube
  • Linkedin
  • Instagram
  • Rss
Designated as Best Children's Hospitals by U.S. News & World Report, Ranked in 10 Specialties in 2023-24

©2025 Riley Hospital for Children at
Indiana University Health
Find adult services at iuhealth.org


Non-discrimination Notice

  • English
  • Español
  • Français
  • Burmese
  • Pennsilfaanisch Deitsch
  • 中文
  • Nederlands
  • Deutsch
  • Hakha
  • 日本語
  • Karen
  • 한국어
  • Русский
  • Tagalog
  • Tiếng Việt
  • العربية
  • हिंदी
  • ਪੰਜਾਬੀ
Back to top of the page