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November 12, 2012


November 12, 2012

My son was diagnosed with a rare chromosomal deletion (5q11.2-q13.2) at 13 months of age and we were told there was no other information for us about this deletion. We felt completely alone. Then somehow I found Chromosome Disorder Outreach and became a member and was put in contact with many families who have similar deletions to my son. Through their newsletter I was also informed of a recently published article by a French geneticist outlining the similarities between 4 children who had my son's EXACT deletion. I was able to contact her and have my son's data included in her research of what is now know as 5q12.2 Deletion Syndrome. Without CDO, we would still feel like we were completely alone.

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