title: Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.
abstract: Miller-Dieker syndrome represents a microdeletion syndrome spanning the LIS1 locus at 17p13.3, the deletion of which leads to lissencephaly. A fluorescence in situ hybridization study using an LIS1 probe is considered the standard laboratory diagnostic method for Miller-Dieker syndrome. This report documents a Miller-Dieker syndrome patient who tested normal when a commercially available LIS1 fluorescence in situ hybridization study probe was used but was later demonstrated to have a partial deletion of the LIS1 locus. The present case exemplifies a major shortcoming of commercially available fluorescence in situ hybridization studies for the diagnosis of microdeletion syndromes such as Miller-Dieker syndrome: that is, relatively small deletion can potentially remain undetected.
authors: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors: Kosuke
authors: K
authors: Izumi
authors: Gen
authors: G
authors: Kuratsuji
authors: Kazushige
authors: K
authors: Ikeda
authors: Takao
authors: T
authors: Takahashi
authors: Kenjiro
authors: K
authors: Kosaki
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000592:standards*; D007231:Infant, Newborn; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000235:genetics*; D011933:Reagent Kits, Diagnostic / Q000592:standards
chemical_list: D008869:Microtubule-Associated Proteins; D011933:Reagent Kits, Diagnostic; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human