1 Department of Clinical Medicine, The Faculty of Medicine, Aalborg University, VBN2 The Faculty of Medicine, Aalborg University, VBN3 Aalborg University Hospital, The Faculty of Medicine, Aalborg University, VBN4 Klinik Diagnostik, The Faculty of Medicine, Aalborg University, VBN5 Arvelige Sygdomme (Klinisk Genetik), The Faculty of Medicine, Aalborg University, VBN6 unknown
BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies. RESULTS: We report on a 3-year-old girl with a rare 2.9 Mb interstitial deletion at 13q12.11 due to a de novo unbalanced t(13;14) translocation. She had mild mental retardation and relatively mild dysmorphic features such as microcephaly, flat nasal bridge, moderate micrognathia and clinodactyly of 5(th) finger. Molecular karyotyping revealed a deletion on the long arm of chromosome 13 as involving sub-bands 13q12.11, a deletion of about 2.9 Mb. DISCUSSION: The clinical application of array-CGH has made it possible to detect submicroscopical genomic rearrangements that are associated with varying phenotypes.The description of more patients with deletions of the 13q12.11 region will allow a more precise genotype-phenotype correlation.