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Hum Genet. 1994 Jul;94(1):95-6.

Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.

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Laboratoire de Biologie Moléculaire et Hormonologie, CHU Bicêtre, Le Kremlin-Bicêtre, France.


DNA markers YNZ22.1 and YNH37.3 were studied by Southern blotting in 14 patients with typical (11 cases) and atypical (3 cases) type 1 Lissencephaly, all with normal high resolution karyotype. A submicroscopic deletion was found in 2 typical cases: one with Miller-Dieker Syndrome (MDS), the other with Isolated Lissencephaly Sequence (ILS). These results suggest a genetic continuum between MDS and ILS. The low frequency of such deletions, especially in ILS, will necessitate direct testing of the newly identified LIS 1 gene.

[Indexed for MEDLINE]

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