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A Girl with Triploid Cells

1963; Nature Portfolio; Volume: 198; Issue: 4878 Linguagem: Inglês

10.1038/198411a0

1476-4687

J. R. Ellis, Ruth Marshall, I. C. S. Normand, L. S. PENROSE,

Genetic Syndromes and Imprinting

TRIPLOIDY in somatic human cells has been recorded on three occasions. Böök and Santesson1 described a boy with gross mental retardation and syndactyly whose skin and connective tissue, when cultured, were found to contain both triploid and diploid cells; cultures from blood gave rise to diploid cells only. Pure cultures of triploid cells were obtained by Penrose and Delhanty2 from fœtal remnants in a case of missed abortion and by Delhanty, Ellis and Rowley3 from a spontaneously aborted embryo. In all these instances, the triploid cells contained 66 autosomes and XXY sex chromosomes. The present communication describes a case in which triploid cells with XXX sex chromosomes were found.