Summary
Fluorescence studies in 17 cri-du-chat patients made it possible to locate the pathogenetic segment to a specific section at the short arm of chromosome No. 5.
Zusammenfassung
Fluorescenzuntersuchungen an 17 Cri du Chat-Patienten ermöglichten die Lokalisation des pathogenetischen Segmentes auf einem spezifischen Abschnitt des kurzen Arms von Chromosom 5.
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References
Breg, W. R., Steele, M. W., Miller, O. J., Warburton, D., Capoa, A. de, Allderdice, P. W.: The cri-du-chat syndrome in adolescents and adults. J. Pediat. 77, 782–791 (1970).
Lejeune, J., Lafourcade, J., Grouchy, J. de, Berger, R., Gautier, M., Salmon, C., Turpin, R.: Délétion partielle du bras court du chromosome 5. Individualisation d'un nouvel état morbide. Sem. Hôp. Paris 40, 1069–1079 (1964).
Miller, D. A., Warburton, D., Miller, O. J.: Clustering in deleted short-arm length among 25 cases with a Bp—chromosome. Cytogetics 8, 109–116 (1969).
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Niebuhr, E. Localization of the deleted segment in the cri-du-chat syndrome. Hum Genet 16, 357–358 (1972). https://doi.org/10.1007/BF00283988
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DOI: https://doi.org/10.1007/BF00283988