Trisomy 8q

Healthcare/Doctors

How do I find a center of excellence in trisomy 8q?

If you are pregnant with a child that has trisomy 8q, you may be referred to a maternal fetal medicine doctor (MFM). These doctors specialize in pregnancies that require special care and attention.

A child born with trisomy 8q will usually need to see a medical genetics team. This team can help in diagnosis and counseling of families. To find a Genetics Clinic, visit https://www.genetests.org/clinics/ and search for 'Pediatric Genetics'.

Depending on the symptoms, certain specialists can be consulted. For example, if the child has problems with their bones, they can see an orthopedic doctor, if a child has problems with their heart, they can see a cardiologist, and if a child has problems with their kidneys, they should see a kidney specialist (nephrologist).

References
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What specialist doctors should I see with trisomy 8q?

If I have trisomy 8q, what should my doctor know about managing the disease?

What specialist doctors should I see with trisomy 8q?

If you are pregnant with a child that has trisomy 8q, you may be referred to a maternal fetal medicine doctor (MFM). These doctors specialize in pregnancies that require special care and attention.

A child born with trisomy 8q will usually need to see a medical genetics team. This team can help in diagnosis and counseling of families. To find a Genetics Clinic, visit https://www.genetests.org/clinics/ and search for 'Pediatric Genetics'

Depending on the symptoms, certain specialists can be consulted. For example, if the child has problems with their bones, they can see an orthopedic doctor, if a child has problems with their heart, they can see a cardiologist, and if a child has problems with their kidneys, they should see a urologist.

References
If I have trisomy 8q, what should my doctor know about managing the disease?

Your doctor should be knowledgeable about your individual symptoms. They should know to monitor for delayed development, such as walking later than peers, and intellectual disability. They should check for heart, kidney, and skeletal problems. Parents of a child with trisomy 8q should be tested for a chromosome rearrangement called a balanced translocation that can increase the chances of having another child affected with the condition.

References
  • Schinzel, A. (1977) Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome. Hum Genet. 37(1):17-26. http://www.ncbi.nlm.nih.gov/pubmed/881192

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