Abstract
We have identified one patient with delayed psychomotor acquisition, macrocephaly and characteristic facial morphological features. The patient had a microduplication of 4.6 megabases in the 2p16.1p15 region, demonstrated by CGH array. Karyotyping with fluorescent in situ hybridization confirmed this microduplication, and qPCR in the parents showed that it was probably de novo. There are only 6 described cases. Our patient has splenomegaly and epilepsy, not described in this syndrome. We plan to further describe the phenotype of this rare microduplication, which appears to be, at least for several features (macrocephaly vs microcephaly), a countertype of the 2p16.1p15 microdeletion.
Coordinating clinicians
Margot ARNAUD – margot.arnaud01@chu-lyon.fr
Patrick EDERY – patrick.edery@chu-lyon.fr
Institution
Genetics Service, LYON HCP
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No