What causes developmental delay, seizures, autism in patient with duplication of 17q12?

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Posted on Tue, 9 Jun 2015 in Child Health
Question: My daughter is 6 and has duplication of 17q12, she also has a seizure disorder, developmental delays, and recently diagnosed with PDD. She is being followed for Microcephaly Are all of these related.
is there a diagnoses for this? i was recently asked by a teacher at my daughters school, but she was advised not to talk to me until i have a diagnoses for my daughter.
doctor
Answered by Dr. Pradeep Kumar 2 hours later
Brief Answer:
Duplication of 17q12 is a genetic disorder

Detailed Answer:
Hello

Thanks for the query

To make you understand I am classifying diseases according to the causes.

The disease can be infective or noninfective in origin.
Infective diseases again can be due to infection of viruses,bacteria,fungus like diarrhea,pneumonia,hepatitis,meningitis and many other.
Noninfective diseases can be due to allergic,genetic, metabolic disorder,malignancy etc.

Now coming to genetic disorder-
Our bodies are made up of billions of cells. Most of the cells contain a complete set of tens of thousands of genes, made up of DNA. These genes act like a set of instructions,directing the growth and development. Genes are carried on
chromosomes. There are usually 46 chromosomes.Each chromosome has own set of arrangement of genes and defect in a particular chromosome at a particular location can cause a group of developmental or other defects.

The diagnosis of infective causes can be made by hemogram,liver function test,kidney function test,by growing the bacteria or virus etc.

Likewise the genetic diseases are diagnosed by chromosomal analysis.
The 17q12 duplication is found to be among the common genetic defects.

In this disorder there can be
Language and developmental delay,seizures,autism or autistic features(PDD),Kidney and urinary tract problems may be associated with some typical facial features.So all these are spectrum of a single disorder.
The severity of disease depends on to how extent the defect has involved the chromosome.
For assessing the brain anatomy MRI can be done,similarly EEG can be done for seizure and USG for renal anomalies.The mainstay of diagnosis is chromosomal analysis showing 17q12 duplication.
There is no specific treatment and the management depends on the symptoms like antiepileptic for seizures,behavioral and occupational therapy for PPD etc.

I hope this answers your query
I shall be glad to answer if you have any more doubts.
Regards



Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
Dr.
Dr. Pradeep Kumar

Pediatrician, Cardiology

Practicing since :2006

Answered : 1987 Questions

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