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Talking to Your Doctor About Chromosomal Abnormalities
General Tips for Gathering Information
- Bring someone else with you. It helps to have another person hear what is said and think of questions to ask.
- Write out your question ahead of time so you don’t forget them.
- Write down the answers you get and make sure you understand what you are hearing. Ask for clarification, if necessary.
- Don’t be afraid to ask your questions or ask where you can find more information about specific topics. You have a right to know.
Before Your Appointment
- Talk to your parents and siblings about any medical problems they have had.
- Extend your information gathering to grandparents, aunts, uncles, and cousins.
Pay particular attention to the following:
- Known genetic conditions
- Metabolic or mitochondrial disorders
- Recurrent miscarriages or death in infancy
- Heart defects
- Intellectual disability
- Asthma, allergies, or atopic dermatitis
- Heart disease, including heart disease that is present at birth
- High blood pressure
- Kidney disease
- Loss of hearing or vision at a young age
- Mental illness, such as depression, bipolar disorder, or schizophrenia
- Learning problems
- Birth defects, such as spina bifida
- Reviewer: Kari Kassir, MD
- Review Date: 06/2016
- Update Date: 05/20/2015