title: [A case of Miller-Dieker syndrome associated with satellite on chromosome 17p].
abstract: In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, seizures, microcephaly and mental disorders. Cytogenetic studies of this patient confirmed the presence of a 46,XX, 17ps+ chromosome karyotype, but it could not find the microdeletion of 17p13.3. Fluorescence in situ hybridization(FISH) studies confirmed a terminal deletion in the patient using the LIS1 gene probe which mapped to 17p13.3. Further it was also found the satellite on 17p13(17ps) in the patient who was rare associated with MDS. These findings suggest that FISH analysis may be useful method to detect microdeletion of LIS1 gene as 17-specific probe in the investigation of MDS patients.
authors: Clinical Laboratory, Tohoku University Hospital, Sendai 980-8574.
authors: Y
authors: Y
authors: Obara
authors: N
authors: N
authors: Koseki
authors: J
authors: J
authors: Fujiwara
authors: M
authors: M
authors: Kikuchi
authors: T
authors: T
authors: Miura
authors: T
authors: T
authors: Funato
authors: M
authors: M
authors: Kaku
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; D001921:Brain / Q000002:abnormalities*; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008869:Microtubule-Associated Proteins / Q000032:analysis
chemical_list: D008869:Microtubule-Associated Proteins; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human