The Miller-Dieker syndrome (MDS), a syndrome with lissencephaly, distinctive 
craniofacial features, growth impairment, and profound developmental failure, 
has been associated with a deletion of the distal part of chromosome band 17p13. 
A minority of patients with the syndrome do not have a deletion detectable with 
current cytogenetic techniques. Using three highly polymorphic DNA probes 
(pYNZ22, pYNH37.3, and p144D6) we have detected microdeletions in three MDS 
patients, two of whom had no visible abnormalities of chromosome 17. Loci 
defined by two of the DNA probes, pYNZ22 and pYNH37.3, were deleted in all three 
patients. The most distal locus, defined by p144D6, was present in one MDS 
patient, possibly defining the distal limits of the MDS region in band 17p13.3. 
None of these loci were absent in one case of lissencephaly without MDS.