Article
[22q11.2 microdeletion].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Apr 2010
Schneider M, Eliez S
Abstract excerpt
22q11.2 deletion syndrome (22q11DS), most frequently caused by a de novo microdeletion on the long arm of chromosome 22, is one of the most common neurogenetic syndromes. The cognitive and behavioral characteristics associated with the 22q11.2 phenotype can be quite heterogeneous, part of the reason the syndrome is often detected very late, if at all. Though in individuals with more severe cardiac, respiratory,...
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