Genetic Results

I recently attended The MAGIC Convention 2010 in Wheeling, IL.  It was once again, a wonderful time for bonding, relationship building and information gathering with leading physicians familiar with Russell-Silver Syndrome as well as info from likeminded RSS families. 

On Friday, many of our RSS families attended the Genetic Study Results at 3 pm with Dr. Irene Netchine – a leading Endo and Associate Professor of the Pierre & Marie Curie School of Medicine, in Paris, France.

I will attempt to relay the information from my messy notes… <grin>…

Dr. Harbison and Dr. Netchine have concluded that of 65 RSS Patients (a genetic study from 2 years ago)…

11p15 LOM    (LOM = Loss of Methylation)

13 (20%) who were clinically diagnosed – 15% had molecular anomoly idenfitication.  In this category alone – Dr. H and Dr. N were both either uncertain of the RSS or felt it was unlikely these 13 children had RSS.

52 (80%) who were clinically diagnosed (Both Dr. H and Dr. N agreed to their diagnoses) 83% had molecular anomolies identified.

Of the 13 uncertain patients:    1 confirmed LOM 11p15  (7.5%), 1 confirmed MUPD7 (Maternal Uniparental Disomy) (7.5%), and 11 – 85% were negative for both 11p15 / UPD7

Of the 52 patients:  35 – confirmed 11p15 (67.3%), 8 – confirmed MUPD7 (15.4%), and 9 (17%) were negative for both.  Of those 9, 33% – or 3 patients had methlyation anomalies other than the 11 & 7 chromosone with further verification necessary. 

Now, for those of us who were part of the study (Ian included) – we will wait for Dr. H and Dr. N to break “the code” to determine which patient received “which” diagnosis and/or confirmed test.

You can read more from Dr. Netchine regarding epigentics and LOM in 11p15 here :   http://jcem.endojournals.org/cgi/content/abstract/92/8/3148

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