Miller-Dieker syndrome, which includes lissencephaly and a characteristic 
phenotypic appearance, has been reported to have an autosomal recessive pattern 
of inheritance. However, we have found abnormalities of chromosome 17 in two of 
three unrelated patients with this syndrome, one with a ring chromosome 17 and 
the other with an unbalanced translocation resulting in partial monosomy of 
17p13. A review of the literature revealed five additional patients in three 
families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we 
propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome 
in some patients.