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Talking to Your Doctor About Chromosomal Abnormalities

  • Cynthia M. Johnson, MA
Publication Type:

Condition InDepth

Talking to Your Doctor About Chromosomal Abnormalities

You have your own health history. Talk with your doctor about your risk factors and background with chromosomal abnormalities. By talking openly and often with your doctor, you can take an active role in your care.

Tips for Getting Information

Here are some tips that will make it easier to talk to your doctor:

  • Bring someone with you. It helps to have another person hear what is said and think of questions to ask. They may also be able to provide more details to the doctor.
  • Write down your questions so do you do not forget them.
  • Write down the answers you get and make sure you understand what you are hearing. Ask for help if you need it.
  • Do not be afraid to ask your questions or ask where you can find more information. You have a right to know.


  • About Turner syndrome. National Genome Research Institute website. Available at: https://www.genome.gov/Genetic-Disorders/Turner-Syndrome. Accessed May 11, 2022.
  • Chromosome abnormalities fact sheet. National Human Genome Research Institute website. Available at: https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet. Accessed May 11, 2022.
  • Down syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/down-syndrome. Accessed May 11, 2022.


  • Kari Kassir, MD
Last Updated:

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.