Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly

A Mantel; C Leonard; B Husson; N Miladi; M Tardieu; P Landrieu

doi:10.1007/BF02272851

Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly

Hum Genet. 1994 Jul;94(1):95-6. doi: 10.1007/BF02272851.

Authors

A Mantel¹, C Leonard, B Husson, N Miladi, M Tardieu, P Landrieu

Affiliation

¹ Laboratoire de Biologie Moléculaire et Hormonologie, CHU Bicêtre, Le Kremlin-Bicêtre, France.

PMID: 8034303
DOI: 10.1007/BF02272851

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.

MeSH terms

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

Substances

DNA Probes