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rare syndromes

rare syndromes

my daughter has a rare syndrome with so many complications,has anyone heard of 22q11.2 deletion syndrome?
ive been searching for so long for answers and im so afraid there isnt any...anything at all may help.with thanks
a desperate mum
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Avatar_dr_f_tn
Hi,

I am really sorry to hear about your daughter.
This syndrome is known as velocardiofacial syndrome and occurs due to deletion of small part of chromosome 22.
Unfortunately there is no genetic treatment available till now for this syndrome. Treatment is mainly focused around management of symptoms. Please refer to the link below it may be helpful for you.
http://www.22q.org/whatis1.html
Take care!
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