Publications (1)1.47 Total impact
- [Show abstract] [Hide abstract]
ABSTRACT: Interstitial deletions of 14q including band 14q31 are uncommon. We report on a 3 year-old Tunisian girl who had a de novo interstitial deletion of the long arm of chromosome 14. The molecular cytogenetic study has identified the deletion as a del(14)(q24.3q32.2) covering nearly 24Mb. This abnormality was associated to phenotypic manifestations, mainly peculiar face, developmental delay and hypoplastic corpus callosum.