Summary
In a family, two children exhibited chromosome aberrations: a male infant had trisomy G1 and his sister Bp deficiency (cri du chat-syndrome). Screening for proteinpolymorphisms within three generations revealed heterozygosity for two enzyme variants, LDH BB' and 6-PGD AB, in a number of family members, some of whom were double heterozygotes. Linkage can not be tested since these variants are derived from different sibships. An aunt of the affected children exhibited a LDH isoenzyme pattern as it is to be expected in a protein chimaera. In addition, a high number of aneuploid and polyploid cells, including endomitoses, were present in the blood of this proband, and similarly in her mother. The origin of the chimaera is discussed.
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Mit Unterstüzung durch die Deutsche Forschungsgemeinschaft.
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Ritter, H., Engel, W., Op't Hof, J. et al. Untersuchungen von Proteinpolymorphismen an einer Familie mit gehäuften Chromosomenaberrationen. Hum Genet 8, 33–38 (1969). https://doi.org/10.1007/BF00286753
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DOI: https://doi.org/10.1007/BF00286753