Orbeli's syndrome (Dimitrij J. Orbeli)

Related people

Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities.

Description

Deletion of the long arm of chromosome 13 with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities.

Bibliography

  • K. P. Lele, L. S. Penrose, H. B. Stallard:
    Chromosome deletion in a case of retinoblastoma.
    Annals of Human Genetics, London, 1963, 27: 171-174.

  • P. W. Allerdice et al:
    The 13q deletion syndrome.
    American Journal of Human Genetics, Chicago, 1969, 21: 499-512.

  • D. J. Orbeli, et al:
    The syndrome associated with the partial D-monosomy. Case report and review.
    Humangenetik, Berlin, 1971, 13: 296-308.

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