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Genetics (Expert Forum)
is it possible this means something?
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
is it possible this means something?
by juliannaspring, Dec 10, 2007 12:52AM
my 19 month old girl has had siezures and hypertonia in upper body, doesnt breakdown protien proper. my question is she has been tested for every gentic disorder know the only thing they have found is a duplicate chromosone 17p11,2 but both her mom and i was tested and they said she got i from her mom so it doesnt mean anything they said our son 1month old also has it but could this still mean something even though mom and brother doesnt have problems??
Doctor's Answer
by Lisa Kessler, MS, CGC, Dec 11, 2007 02:12PM
, Dec 11, 2007 02:12PM
It sounds like your daughter has a lot going on, and has had several genetic tests already. You may have already done this, but in addition to genetic testing, it is important to also see a pediatric geneticist who can perform a detailed physical exam and help interpret genetic test results. You can find a geneticist through the American College of Medical Genetics.
Without carefully reviewing the lab results for your daughter, her mother and her brother, it is difficult for me to determine the significance of the information. If your daughter’s mother is healthy and has the exact same chromosome finding, it is less likely to cause the features that you have described in your daughter. However, in order to know how to definitively interpret the results, you may benefit from meeting with a genetic counselor to explore whether or not this result can explain the different features that your daughter has. You can find a genetic counselor through the National Society of Genetic Counselors.
Best of luck to you.
Without carefully reviewing the lab results for your daughter, her mother and her brother, it is difficult for me to determine the significance of the information. If your daughter’s mother is healthy and has the exact same chromosome finding, it is less likely to cause the features that you have described in your daughter. However, in order to know how to definitively interpret the results, you may benefit from meeting with a genetic counselor to explore whether or not this result can explain the different features that your daughter has. You can find a genetic counselor through the National Society of Genetic Counselors.
Best of luck to you.
