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6q chromosome deletion
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Avatar universal
6q chromosome deletion
I have a three year old daughter who has a deletion of q27 of chromosome number 6.  She has a number of health and development issues associated with the deletion.  She has had too many seizures to count, she has an ASD and VSD heart murmer, agenisis of the corpus callosum, and is developmentaly delayed by 9-12 months.  I am looking for any information out there about this type of chromosomal deletion.  We have been told it is quite rare and have found little info about the long term effects of the condition.  Does anyone have any information about this type of deletion or know where to find some?
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242606 tn?1243786248
It might be helpful to contact Children's Hospital of Philadelphia (www.chop.edu) at 324 South 34th Street, Philadelphia, Pennsylvania, 19104; tel. 215-590-1000. They have ongoing studies about chromosomal deletion and you can probably obtain the reports from their research just for the asking.
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Avatar universal
Is the 6q chromosome deletion?  If so, here is some info.

http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome132.html


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