We got some of the test results back on James not the dx yet on the noonan syndrome but we got a call saying that the long arm on his chromosome 11q-14.2 is missing or deleted. We met with her again at the end of May to find out for sure what that means but this is what I have found so far. But she also told us not to rule out noonans because he has a lot of the features of it still and she still has not gotten back those results yet so we still can not rule that out.


Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart.

If any one has anymore information any would help. Thank you all.
Amanda

Hello How this finds you all well. We just got back from Dr. Baders office, and shes wants to have James in speech therapy for the summer and also put him in play therapy. Wants him to see a developmental pediatrician and have some kind of neurological testing done. and shes going to research and see what parts of the DNA were affected by the missing chromosomes. It was a lot to take in all at once. I know we will get though it we always do but its kind of scary at the same time!

 Update~~~ We found out that I am too in fact missing the same Chromosome as James is. Not for sure yet what it means for both of us we see the Dr again in December to find out.

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