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Hum Genet. 1991 Aug;87(4):509-10.

Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

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  • 1Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.


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.

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