Article
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
American journal of medical genetics. Part A - 1 Jun 2013
Classen Sabrina, Goecke Timm, Drechsler Matthias, Betz Beate, Nickel Natalie, Beier Manfred, Schaper Jörg, Karenfort Michael, Royer-Pokora Brigitte
Abstract excerpt
We describe a female patient with mild lissencephaly (pachygyria), severe intellectual disability, and facial dysmorphisms with an inverted 1.4 Mb microduplication of chromosome 17p13.3. The 17p13.3 microduplication syndrome is associated with mild intellectual disabiltiy and contains, among others, the PAFAH1B1 (LIS1) gene, whereas microdeletions of the same segment cause Miller-Dieker syndrome (MDS) with severe...
Topics
- 1-Alkyl-2-acetylglycerophosphocholine Esterase
- 14-3-3 Proteins
- Chromosome Disorders
- Chromosome Duplication
- Classical Lissencephalies and Subcortical Band Heterotopias
- Comparative Genomic Hybridization
- DNA
- DNA, Complementary
- Developmental Disabilities
- Female
- Haploinsufficiency