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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Is Meaning Of Deletions And Mutations Of Pms2?

My son took a cytogen etic test because he is autisc and his resultss for his chromosones were normal but they detected 207 kb gain at 7p22 the gene involved a alternation they said the clinical finding is unclear though they find deletios and mutations of pms2 but duplications of this region or gene have not been asscoiated with know syndromes or diseases what does all that mean and rembering he has a noncanceros cyst in his brain can that be related
Fri, 4 Nov 2016
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Internal Medicine Specialist 's  Response
Psm2 is a mismatch repair gene that is located on chromosome 7p22.. carriers of mutations in Psm2 gene have increased risk of developing colorectal cancer later in age..
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Note: For detailed guidance on genetic screening consult a genetics specialist
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What Is Meaning Of Deletions And Mutations Of Pms2?

Psm2 is a mismatch repair gene that is located on chromosome 7p22.. carriers of mutations in Psm2 gene have increased risk of developing colorectal cancer later in age..