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Guest KHuysman

1p36 deletion

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Guest KHuysman

Hello, I am looking for information on 1p36 deletion with tricuspid atresia. A friend's expectant daughter has just received this news. Looking for current prognosis and treatments. Could only find dated articles. Unfortunately I do not know where the deletion has occurred, so can not gauge severity. The atresia is the only cardiac diagnosis. Thank you for any input. Kathy

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These deletions and microdeletions are associated with developmental delay.

CGH array picks them up.

Incidentally associated with complex chd when followed on karyotype and then cgh !!

Dont know how frequently we should should go for cgh array? ?

Family history of dev delay is one indication.

Any other suggestions please!!

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