Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Roger L Ladda, Susan L Sell, Michelle Steinraths, Urvashi Surti, Marianne McGuire, Shelley Williams, Sandra A Farrell, James Filiano, Rhonda E Schnur, Lauren B Coffey, Raymond C Tervo, Tracy Stroud, Michael Marble, Michael Netzloff, Kristen Hanson, Arthur S Aylsworth, J S Bamforth, Deepti Babu, Dmitriy M Niyazov, J Britt Ravnan, Roger A Schultz, Allen N Lamb, Beth S Torchia, Bassem A Bejjani, Lisa G Shaffer
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), abnormalities (agenesis/hypogenesis) of the corpus callosum (ACC), and seizures (SZR). Critical regions have been proposed for some of the more prominent features of this disorder such as MIC and ACC, yet conflicting data have prevented precise determination of the causative genes...
January 2012: Human Genetics