title: Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
abstract: DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a microdeletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.
authors.affiliation: Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.
authors.forename: J F
authors.initials: JF
authors.lastname: De Rijk-van Andel
authors.forename: C E
authors.initials: CE
authors.lastname: Catsman-Berrevoets
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: E
authors.initials: E
authors.lastname: Wesby-van Swaay
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
mesh_terms: D015139:Blotting, Southern; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization; D010375:Pedigree
chemical_list: D004247:DNA