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3 year child diagnosed with partial duplication on chromosome. Having speech and developmental delays. Concerned

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My 3 year son has just been diagnosed with partial duplication on chromosome 17 region 25.3, he has speech and developmental delays and l was wondering should there be anything else l should be concerned about. Thankyou in advance.
Posted Sun, 2 Sep 2012 in Child Health
Answered by Dr. Arnab Maji 5 hours later

Thanks for your query.

Your 3 years old son has just been diagnosed with partial duplication on chromosome 17 region 25.3.

It actually causes an autosomal recessive leucoencephalopathy mainly involving temporal and occipital region. Temporal involvement explains speech abnormality in your son. '

Such children may also suffer from frequent attacks of ischemic stroke resulting in seizure disorder. There may be subcortical infarcts in the brain. Another important feature accompanying it is retinitis pigmentosa i.e. there will be visual problems along with colour detection. Night blindness, tubular vision and blurring of vision may be associated.

So a contrast enhanced MRI scan of brain of your child should be done if not done yet and you should consult an ophthalmologist for proper evaluation.

Besides speech and developmental delays you have to be concerned about ischemic stroke and visual problems of your child. Discuss about these with your current treating doctor to learn more about it.

Hope I have answered your queries. If you want to know further you can freely write back to me. Please write a review on this answer.

God bless you and your child.

Dr. Arnab Maji
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