Abstract
Pallister et al (BD:OAS XIII3B:103, 1977) described two profoundly retarded adults with normal lymphocyte karyotypes and an extra metacentric chromosome in fibroblasts. In a group of eight patients the phenotype was shown to be similar to the 12p trisomy syndrome (J Clin Dysmorphol I(3):1, 1983) under the eponyms of Killian and Teschler. Lactic dehydrogenase (LD) is a tetramer with α (chromosome 11p) and β (chromosome 12p) subunits. LD isozymes were analyzed by electrophoretic and immunochemical methods in serum, red cells, white cells and fibroblasts from two patients and their parents.
Isozymes LD1 and LD2 are not expressed in fibroblasts. An estimate of subunits in LD4 and LD5 had a higher β/α in AJ than the parents. A similar pattern of isozymes in serum, red cells, white cells and fibroblasts was found in the M family.
These data support the identification of the metacentric chromosome as an isochromosome of 12p and demonstrate gene dosage effect in some tissues (serum, red cells and fibroblasts), but not in cells where the isochromosome was not found (white cells).
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Kelly, T., Bruns, D., Mifflin, T. et al. 836 LD-B DOSE EFFECT IN TETRASOMY 12p PSEUDOMOSAICISM. Pediatr Res 19, 250 (1985). https://doi.org/10.1203/00006450-198504000-00866
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DOI: https://doi.org/10.1203/00006450-198504000-00866
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