1.
Eur J Med Genet
; 52(4): 256-9, 2009.
Article
in English
| MEDLINE
| ID: mdl-19450439
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.