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Focal Brain Lesions and Language Development
2005
Pediatric Neurology Briefs
dup7ql 1.23, located in the long q arm of chromosome 7, at the region commonly deleted in WBS. The characteristic facial phenotype is also shared with a previously described syndrome of delay in expressive language and supernumerary ring chromosome 7. This consists of a high, broad nose, posteriorly rotated ears, high-arched palate, and short philtrum. These facies coupled with expressive language delay should prompt genetic testing for duplication of the WBS region. An editorial perspective
doi:10.15844/pedneurbriefs-19-11-2
fatcat:k7t7gaipvfetfgnik7sgcme3ny