Summary
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 micro deletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.
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References
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De Rijk-van Andel, J.F., Catsman-Berrevoets, C.E., Halley, D.J.J. et al. Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13. Hum Genet 87, 509–510 (1991). https://doi.org/10.1007/BF00197179
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DOI: https://doi.org/10.1007/BF00197179