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for HSCT evaluation. It was determined that there might also be a maternal family history of Fragile X syndrome. EB, and his mother, were tested and the mother was found to be a carrier of a premutation allele (82 repeats) and EB was found to be mosaic for a premutation allele and a full mutation (107 and >200 repeats). Since Fragile X syndrome, even in a mosaic state, is expected to cause cognitive disability in males, it was determined that even if HSCT was performed, this child may see only minimal neurological benefit due to the underlying Fragile X syndrome. This abstract will discuss the ethical dilemmas presented by these results and how the dilemma was eventually resolved with emphasis on ethical principles.

David Warnock, Daniel Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls, Mark Thomas, Francois Eyskens, Suma Shankar, Majed Dasouki, Franklin Johnson, Pol Boudes, University of Alabama at Birmingham, Birmingham, AL, USA, Hopital du Sacre-Coeur, Montreal, QC, Canada, University of Iowa Children's Hospital, Iowa City, IA, USA, O&O Alpan, LLC, Springfield, VA, USA, Royal Melbourne Hospital, Parkville, Australia, Linear Clinical Research, Perth WA, Australia, Universitair Ziekenhuis Antwerpen, Edegem, Belgium, Emory University, Decatur, GA, USA, University of Kansas, Kansas City, KS, USA, Amicus Therapeutics, Cranbury, NJ, USA