Ontology highlight
ABSTRACT:
SUBMITTER: Nicita F
PROVIDER: S-EPMC4657200 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Molecular cytogenetics 20151124
<h4>Background</h4>Interstitial deletions of the long arm of chromosome 14 involving the 14q24-q32 region have been reported in less than 20 patients. Previous studies mainly attempted to delineate recognizable facial dysmorphisms; conversely, descriptions on neurological features are limited to the presence of cognitive and motor delay, but no better characterization exists.<h4>Case presentation</h4>In this paper we report on a patient with a de novo interstitial deletion of 5.5 Mb at 14q24.3-q ...[more]