A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

作者：Lagou Magdalini; Papoulidis Ioannis; Orru Sandro; Papadopoulos Vasileios; Daskalakis George; Kontodiou Maria; Anastasakis Eleftherios; Petersen Michael B; Kitsos George; Thomaidis Loretta; Manolakos Emmanouil^*

来源：Molecular Cytogenetics, 2014, 7(1): 92.

DOI：10.1186/s13039-014-0092-5

• 13q12.11
• Array-CGH
• Deletion
• Mild dysmorphic features

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. %26lt;br%26gt;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 5th 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. %26lt;br%26gt;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.

• 出版日期2014-12-3