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.
Before Your Appointment
Gather as much information on your family's health history as you are able.
- Talk to your parents, brothers, and sisters about any health problems they have had.
- Ask grandparents, aunts, uncles, and cousins.
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Pay attention to:
- Known genetic problems
- Autism
- Seizures
- Metabolic or mitochondrial disorders
- Recurring miscarriages or death in infancy
- Heart defects
- Intellectual disability
- Cancer
- Asthma, allergies, or atopic dermatitis
- Diabetes
- Heart disease, especially when present at birth
- High blood pressure
- Alcoholism
- Stroke
- 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
References
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.