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Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
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Orbeli's syndrome (Dimitrij J. Orbeli)
Associated persons:
Dimitrij J. Orbeli
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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