Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.
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.
De Rijk-van Andel
J F
JF
Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.
Catsman-Berrevoets
C E
CE
Halley
D J
DJ
Wesby-van Swaay
E
E
Niermeijer
M F
MF
Oostra
B A
BA
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
D004247:DNA