We report the case of a 10-year-old girl affected by partial epilepsy, mental retardation, and multiple malformations who had a de novo apparently balanced translocation of chromosomes 4 and 9. This rearrangement disrupted the myeloid/lymphoid or mixed-lineage leukemia gene (MLLT3), which is located on the BAC RP11-73E6 region of chromosome 9p22. We suggest that screening for apparently balanced chromosome rearrangements should be conducted in patients presenting with dysmorphic features, developmental delay and epilepsy in order to learn more about genotype/phenotype correlations in epilepsy.
|Translated title of the contribution||Partial epilepsy, mental retardation and multiple malformative features. One patient with a de novo balanced traslocation (4;9) determining interruption of the MLLT3 gene|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 2005|
ASJC Scopus subject areas
- Clinical Neurology