Graaf, R. van de

patient chromosome mutation syndrome analysis marker genet ring chromosome family region supernumerary protein ataxia study marker chromosome sequence diagnosis identi phenotype figure identi fied probe f 145s mutation fgf 14 supernumerary ring chromosome cause erasmus mc abnormality cylindromatosi van der veken table heterotopia retardation ring chromosome 18 deletion epilepsy j med genet right result group brain trichoepithelioma mosaicism chromosome 18 allele anomaly unclassi fied variant feature centromere erasmu rotterdam cytogenetic genome pachygyria parent blood karyotype pericentromeric region model neurol www.archneurol.com origin fetus gyral pattern testing factor 18. polymicrogyria growth center development lissencephaly defect kohlhase product change marker chromosomes disorder probe rp 11-91a classification