Trisomy 20p
Healthcare/Doctors
How do I find a center of excellence in trisomy 20p?
As of May 30, 2016, there is no specific center of excellence for trisomy 20p. However, many major medical centers have specialist doctors who are experienced with the different features and symptoms of this condition. For example, if you are pregnant with a baby who has trisomy 20p, you may be followed by a Maternal Fetal Medicine specialist. If your child has trisomy 20p, they may be referred to a speech therapist or physical therapist. Ask your primary care doctor which specialists you should see. Or, to speak with a genetic counselor about genetic testing and/or risks to future pregnancies, use the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.
References
- http://www.ncbi.nlm.nih.gov/pubmed/23126390
- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261318
- “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website
More Healthcare/Doctors Content
What specialist doctors should I see with trisomy 20p?
If I have trisomy 20p, what should my doctor know about managing the disease?
What specialist doctors should I see with trisomy 20p?
If you are pregnant with a child that has trisomy 20p, you may be referred to a maternal fetal medicine doctor (MFM). These doctors specialize in pregnancies that require special care and attention. You might also see a medical genetics team. This team can help in diagnosis and counseling of families. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.
Depending on a person's symptoms, different specialists can be consulted. For example, if the child has problems with their bones, such as a curved spine, they can see an orthopedic doctor. For dental problems, they can consult a dentist or orthodontist. For heart defects at birth, they may need to see a cardiologist.
References
- http://www.ncbi.nlm.nih.gov/pubmed/23126390
- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261318
- “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website
If I have trisomy 20p, what should my doctor know about managing the disease?
If you have trisomy 20p, your doctor should be knowledgeable about your individual symptoms. They should monitor for delayed development, such as walking later than peers, and intellectual disability. They should also know that speech therapy is available for people who have difficulty making certain sounds, which makes it difficult for them to speak. Your doctor should offer to refer you to specialists, like a genetics doctor, heart doctor, or kidney doctor, if needed,