PMID: 6834189Apr 1, 1983Paper

Miller-Dieker syndrome: lissencephaly and monosomy 17p

The Journal of Pediatrics
William B DobynsDavid H Ledbetter


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.


Feb 1, 1979·Journal of Computer Assisted Tomography·K OhnoM Arima
Feb 1, 1976·Neuropädiatrie·K Jellinger, A Rett
Jul 23, 1975·Humangenetik·A G WeinbergM J Harrod
Mar 26, 1976·Science·J J Yunis
Oct 30, 1971·Lancet·M Seabright
Jan 1, 1974·Humangenetik·J J HooH Cramer
Jan 1, 1981·Human Genetics·J P FrynsH Van den Berghe
Mar 1, 1982·American Journal of Medical Genetics·B U Zabel, W A Baumann
Aug 1, 1982·The Journal of Pediatrics·R I KelleyH H Punnett
Jun 1, 1981·Journal of Medical Genetics·N J CarpenterB Say
Jan 1, 1981·Human Genetics·A de la ChapelleP Aula
Feb 5, 1981·The New England Journal of Medicine·D H LedbetterJ D Crawford
Oct 1, 1963·Neurology·J Q MILLER

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