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

Abstract

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.

• Authors: A Mantel, C Leonard, B Husson, N Miladi, M Tardieu, P Landrieu
• Journal: Human genetics (Hum Genet) Vol. 94 Issue 1 Pg. 95-6 (Jul 1994) ISSN: 0340-6717 [Print] Germany
• PMID: 8034303 (Publication Type: Journal Article)

Chemical References

• DNA Probes

Topics

• Cerebral Cortex (abnormalities)
• Chromosome Deletion
• Chromosomes, Human, Pair 17
• Congenital Abnormalities (genetics)
• DNA Probes
• Female
• Humans
• Male
• Pedigree
• Syndrome