title: A microduplication on chromosome 17p13.1p13.3 including the PAFAH1B1 (LIS1) gene.
abstract: Recently, three children with a microduplication in 17p13 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 17p13.1p13.3 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.
authors: Vaestoliitto, The Family Federation of Finland, Department of Medical Genetics, Helsinki, Finland. kristiina.avela@vaestoliitto.fi
authors: Kristiina
authors: K
authors: Avela
authors: Katja
authors: K
authors: Aktan-Collan
authors: Nina
authors: N
authors: Horelli-Kuitunen
authors: Sakari
authors: S
authors: Knuutila
authors: Mirja
authors: M
authors: Somer