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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Is Not Gaining Weight In A 22q Duplication Baby Normal?

my three year old little girl was born with the 22q duplication which has caused her to have multiple issues and eats through a GJ tube nor cannot walk or talk. She has not gained weight in the last 1-2 years, could this be a symptom or is it fixable?
Fri, 27 Jun 2014
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Radiologist 's  Response
Hi,
Thanks for writing in.

The 22q11.2 duplication phenotype appears to be generally mild and highly variable; findings range from apparently normal to intellectual disability/learning disability, delayed psychomotor development, growth retardation, and/or hypotonia. Your baby might be one of the unfortunate ones to be affected by extreme form of the condition. Rehabilitation must continue and her diet plans may be discussed with a pediatrician in consultation with a dietitian.
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Is Not Gaining Weight In A 22q Duplication Baby Normal?

Hi, Thanks for writing in. The 22q11.2 duplication phenotype appears to be generally mild and highly variable; findings range from apparently normal to intellectual disability/learning disability, delayed psychomotor development, growth retardation, and/or hypotonia. Your baby might be one of the unfortunate ones to be affected by extreme form of the condition. Rehabilitation must continue and her diet plans may be discussed with a pediatrician in consultation with a dietitian.