Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.
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.
Mantel
A
A
Laboratoire de Biologie Moléculaire et Hormonologie, CHU Bicêtre, Le Kremlin-Bicêtre, France.
Leonard
C
C
Husson
B
B
Miladi
N
N
Tardieu
M
M
Landrieu
P
P
D002540:Cerebral Cortex / Q000002:abnormalities*; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D000013:Congenital Abnormalities / Q000235:genetics; D015342:DNA Probes; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome
D015342:DNA Probes