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4 Year Old Diagnosed With Developmental Delay. What Is Meant By Genetic Disorder And Its Cure?
Question: Hi! My 4 year old daughter was diagnosed with Developmental Delay. She's had two MRI's done (DEC 2011/JUN 2012). The first MRI came back healthy with the exception to a pineal cyst which the Neuro told me not to worry about. The second MRI 6 months later was a follow up of the pineal cyst which did not increase in size. They did find she had sinisitis. During the 2nd MRI the Neuro requested bloodwork of her chrosomosones and this was the result of that: Procedure Requested: REF26-Ambulatory referral to Genetics#0000. Priority: Routine Class: XXXXXXX Referral. Comment: Please evaluate and treat, autosomal recessive gene delation at 2q13. Associated Diagnoses. 799.89EY Genetic Disorder. What does this mean and what can we do to help her? I will try to upload the results. Thank you so much for your help!!
Dear,
Thank you for the query.
I am unable to give much information without having a look at the report. The one attached has no valuable data.
To my knowledge, in a chromosome report, one is unable to find "gene deletions". It is better to take a Geneticist physical assessment.
Also, typically such cases have very least chances of cure; however, the symptoms are to be addressed & progression / prognosis can be discussed. One good point is that she shows signs of improvement by her parent. I think you should follow up with Pediatric Neurologist.
Regards
Dr. Manjeet Mehta,
Geneticist.
Thank you for the query.
I am unable to give much information without having a look at the report. The one attached has no valuable data.
To my knowledge, in a chromosome report, one is unable to find "gene deletions". It is better to take a Geneticist physical assessment.
Also, typically such cases have very least chances of cure; however, the symptoms are to be addressed & progression / prognosis can be discussed. One good point is that she shows signs of improvement by her parent. I think you should follow up with Pediatric Neurologist.
Regards
Dr. Manjeet Mehta,
Geneticist.
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Answered by
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