Summary
The case of a 2;5 year old boy with the typical features of the Cri du Chatsyndrome is described. The cytogenetical examination of lymphocytes and fibroblasts revealed a mosaicism with an approximated 1:1 relation between normal cells and cells with a deletion of the short arm of a B-chromosome. Autoradiography proved the deleted chromosome to be a chromosome No. 5.
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Neuhäuser, G., Singer, H. & Zang, K.D. Cri du Chat-syndrome mit Chromosomenmosaik 46, XY/46, XY, 5p-. Hum Genet 5, 315–320 (1968). https://doi.org/10.1007/BF00291640
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DOI: https://doi.org/10.1007/BF00291640