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

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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Correspondence to C. Dhellemmes.

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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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Keywords

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