Summary
A 20-day-old girl who was diagnosed as leprechaunism had a 46,XX, 21q+ complement. Both of the father and the paternal grand father were carriers of a translocation t(3;21) (q26 or 27;q22). The patient was trisomic for the distal segment of 3q and monosomic for a very small segment of 21q. The karyotype was 46,XX, der(21), rep(3;21) (q26 or 27;q22). Clinical features of the only reported case of distal 3q trisomy in the literature as well as cytogenetic findings of cases with leprechaunism are briefly reviewed.
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Dekaban, A. 1965. Metabolic and chromosomal studies in leprechaunism.Arch. Dis. Childh. 40: 632–636.
Der Kaloustian, V. M., Kronfol, N. M., Takla, R., Habash, A., Khazin, A., and Najjar, S. S. 1971. Leprechaunism, A report of two new cases.Amer. J. Dis. Child. 122: 442–445.
Donohue, W. L., and Uchida, I. 1954. Leprechaunism, A euphuism for a rare familiar disorder.J. Pediatr. 45: 505–519.
Evans, P. R. 1955. Leprechaunism.Arch. Dis. Childh. 30: 479–483.
Ferguson-Smith, M. A., Hamilton, W., Ferguson, I. C., and Ellis, P. M. 1968. An abnormal metacentric chromosome in an infant with leprechaunism.Ann. Génét. 11: 195–200.
Gross-Kieselstein, E., Ben-Galim, E., Amir, N., and Abrahamov, A. 1973. Leprechaunism (Donohue syndrome).Amer. J. Dis. Child. 126: 500–503.
Kálló, A., Lakatos, I., and Szijártó, L. 1965. Leprechaunism (Donohue's syndrome).J. Pediatr. 66: 372–379.
Kuhlkamp, F. und Helwig, H. 1970. Das Krankheitsbild des Kongenitalen Dysendokrinismus oder Leprechaunismus.Z. Kinderheilk. 109: 50–63.
Kuwabara, H. 1973. Leprechaunism (Donohue's syndrome).J. Pediatr. Practice 36: 364–368 (in Japanese).
Morooka, K. 1973. Leprechaunism (Donohue's syndrome).Brain and Development 5: 171–173 (in Japanese).
Patterson, J. H. and Lorraine Watkins, W. 1962. Leprechaunism in a male infant.J. Pediatr. 60: 730–739.
Rogers, D. R. 1966. Leprechaunism (Donohue's syndrome), A possible case, with emphasis on change in the adenohypophysis.Amer. J. Clin. Path. 45: 614–619.
Salmon, M. A. and Webb, J. N. 1963. Dystrophic changes associated with leprechaunism in a male infant.Arch. Dis. Childh. 38: 530–535.
Shimada, N. 1973. Leprechaunism. Rinshoo Shinseijigaku Koza. Kanehara Shuppan, p. 560 (in Japanese).
Summitt, R. L. and Favara, B. E. 1969. Leprechaunism (Donohue's syndrome), a case report.J. Pediatr. 74: 601–610.
Tsujino, G. 1968. An autopsy case of leprechaunism.Acta Pediatrica Japonica 72: 1549–1550 (in Japanese).
Uematsu, K., Morimura, Y., Matsumoto, K., Kato, K., Tsujino, G., and Minogawa, J. 1974. Leprechaunism (Donohue's syndrome) Two autopsy cases.Acta Path. Jap. 24: 309–324.
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Iwasaki, H., Abe, M., Kato, H. et al. A case of leprechaunism with chromosome abnormality (46, XX, der(21), t(3; 21)(q26 or 27; q22)pat). Jap J Human Genet 23, 145–151 (1978). https://doi.org/10.1007/BF02001796
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DOI: https://doi.org/10.1007/BF02001796
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