Well I figured the easiest way to do this was to repost and excerpt from my Unqiue Facebook group introduction. "Hello everyone. I am going to take a moment to introduce myself, and my child. The most important thing is that my child and I have a 1.10mb loss (deletion) of 12q13.13, and several other micro losses and gains in our DNA. The losses are from chromosomes 2q32.2, 6p21.1, 8p11.23, 14q11.2, 17q21.31, and Xp22.33. The gains are on chromosomes Xq11.1, and Xq28. There is unclear clinical significance for all of our DNA losses and gains (according to my genetics counselors). My child and I are the only 2 clinically diagnosed in the world with the 12q13.13 deletion (Microarray Result 48,681,290-49,784,059)."
These are the results of the Microarray and FISH analysis done 3 years ago. Still my child and I are the only 2 clinically diagnosed with the 12q13.13 deletion. If you would like more information about the sizes of the micro losses and gains just ask.
In further review it has been determined that my son is a carrier of a rare autosomal recessive iron metabolism disorder.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=209981
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