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.
Bibliographical noteFunding Information:
From the Departments of Pediatrics, Neurology, and Medicine and the Kleberg Cytogenetics Laboratory, Baylor College of Medicine, and the Neurology Service, Texas Children's Hospital. Supported in part by National Foundation March of Dimes Grant 2-161/C-331, by funds from the Texas Department of Health through PL 94-278 National Genetic Diseases Act, and by the Kleberg Center for Human Genetics. Reprint requests: William B. Dobyns, M.D., Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905.