A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.

摘要

Recently, three children with a microduplicatlon in 17pl3 including the PAFAH1B1 gene that encodes LIS1 were reported, LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et aL, 2009]. Here, we report an additional patient with a microduplication on chromosome 17pl3.1pl3.3 including the PAFAH1B1 gene, that was inserted into the long arm of chromosome 4. The patient had psychomotor and growth retardation, dysmorphic features, small ventricular septal defect (VSD), and immunoglobulin abnormality. Only subtle abnormalities in brain MRI scan were seen. Interestingly, the facial features of our patient closely resemble those previously reported in 17p trisomy patients.