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 diseases and disorders:
- Known genetic conditions
- 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 or schizophrenia
- Learning problems
- Birth defects, such as spina bifida
- In addition to recording the disease, note the age the problem occurred as well as any relevant health information. For example, was a family member a heavy smoker? Was he physically active or overweight? Additionally, certain genetic problems are more dominant among particular ethnic groups, so be sure to include this information as well.
Chromosome abnormalities. National Human Genome Research Institute website. Available at: http://www.genome.gov/11508982 . Updated October 13, 2011. Accessed July 24, 2013.
FAQs about genetic counselors and the NSGC. The National Society of Genetic Counselors website. Available at: http://www.nsgc.org/About/FAQsaboutGeneticCounselorsandtheNSGC/tabid/143/Default.aspx . Accessed July 25, 2013.
- Reviewer: Kari Kassir, MD
- Review Date: 05/2014 -
- Update Date: 05/07/2014 -
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.
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