Translocation and trisomic mongol sibs

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Abstract
SUMMARY: A family in which there were two mongol sisters is described. Cytological investigation showed that the elder sister had a chromosomal translocation and the younger was a mongol of the standard trisomic type. The translocation chromosome, as observed under the electron microscope, was found to have an unusual centromere structure. Possible origins of the translocation are discussed.The writers wish to extend their thanks to Dr H. E. Huxley for photographing the preparations under the electron microscope, to Miss Ruth Marshall for red cell antigen typing and for culturing a specimen of peripheral blood, to Dr Sarah B. Holt for analysing the finger dermal ridge patterns, to Mr A. J. Lee for drawings, to Miss Marie Bogati and Mr N. P. Bishun for assistance with fibroblast cultures, to Miss Barbara Warland for family history notes, to Dr D. H. H. Thomas, Dr G. E. B. Scott and Dr J. E. Bowman for assistance with clinical examinations and to Miss H. Lang‐Brown for help in compiling the paper for publication. The work was supported in part by a grant (RG‐6984) from the United States Public Health Service.