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Agyria — pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies

Human Genetics volume 79, pages 163–167 (1988)Cite this article

Summary

Twelve cases of lissencephaly are reported. A high resolution chromosome study was performed on each in order to detect small chromosomal anomalies, undetectable with routine techniques. Only one case was shown to have an unbalanced karyotype with a microdeletion of the short arm of chromosome 17(del 17p). This child also had symptoms of the Miller-Dieker syndrome, consisting of lissencephaly, characteristic facies, pre- and post-natal growth retardation and other birth defects. As proposed by Dobyns, it seems justifiable to classify lissencephalies into four different groups, according to other clinical manifestations and results of chromosome studies.

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Authors and Affiliations

  1. Laboratoire d'Anatomie Pathologique, Cytologie, Cytogénétique, Hôpital Saint Vincent de Paul, 74, avenue Denfert-Rochereau, F-75674, Paris Cédex 14, France

    C. Dhellemmes, S. Girard, A. Choiset & S. Tapia

  2. U 29 INSERM and Service de Pédiatrie A, Hôpital Saint Vincent de Paul, 74, avenue Denfert-Rochereau, F-75674, Paris Cédex 14, France

    O. Dulac

  3. U 29 INSERM and Laboratoire de Neuropathologie, Hôpital Saint Vincent de Paul, 74, avenue Denfert-Rochereau, F-75674, Paris Cédex 14, France

    O. Robain

Authors
  1. C. Dhellemmes
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  2. S. Girard
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  3. O. Dulac
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  4. O. Robain
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  5. A. Choiset
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  6. S. Tapia
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Dhellemmes, C., Girard, S., Dulac, O. et al. Agyria — pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies. Hum Genet 79, 163–167 (1988). https://doi.org/10.1007/BF00280557

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  • DOI: https://doi.org/10.1007/BF00280557

Keywords

  • Internal Medicine
  • High Resolution
  • Birth Defect
  • Metabolic Disease
  • Clinical Manifestation