A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported. While the general phenotype was consistent with "trisomy 12 p syndrome", the characteristics of the epilepsy were those described in Wolf-Hirschhorn syndrome (WHS). We hypotesized that the small deletion of the short arm chromosome 4, flanking the WHSCR region, could better define the distal limits of WHS genes.
|Translated title of the contribution||Trisomy of the short arm of chromosome 12 and microdeletion of the short arm of chromosome 4: Clinical and EEG features|
|Number of pages||4|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2003|
ASJC Scopus subject areas
- Clinical Neurology