Alternative titles; symbols
ORPHA: 2149, 98892; DO: 0050454;
Cytogenetic location: 5p15.1 Genomic coordinates (GRCh38) : 5:15,000,001-18,400,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5p15.1 | Periventricular nodular heterotopia 3 | 608098 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see 300049.
Sheen et al. (2003) described 2 individuals from unrelated families in whom periventricular nodular heterotopia was associated with anomalies of chromosome 5p. Both individuals had complex partial seizures. Magnetic resonance imaging demonstrated bilateral nodular periventricular heterotopia, with subcortical heterotopia or focal gliosis. FISH identified a duplication of 5p15.1 (46,XX,dup(5)(p15.1p15.1)) in one patient. In the other, FISH showed trisomy of 5p15.33 (46,XY,der(14)t(5;14)(p15.33;p11.2)mat). These findings indicated the existence of a novel periventricular heterotopia locus along the telomeric end of chromosome 5p.
Sheen, V. L., Wheless, J. W., Bodell, A., Braverman, E., Cotter, P. D., Rauen, K. A., Glenn, O., Weisiger, K., Packman, S., Walsh, C. A., Sherr, E. H. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology 60: 1033-1036, 2003. [PubMed: 12654978] [Full Text: https://doi.org/10.1212/01.wnl.0000052689.03214.61]