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Progressive Neuromuscular and Skeletal Disorders in a Male with an Acrocentric Supernumerary Chromosome

Abstract

A CONNEXION between sex chromosome abnormalities and a widespread defect of either connective or nervous tissues has recently been discussed1–8. Several clinical features, such as presenile cataract, have been found to be common to individuals with XYY, XXY and other sex chromosome polysomes, as well as to those with progressive myopathies9–11 and hereditary errors in connective tissue. The transitional forms of these familial diseases have also been reported in association with supernumerary chromosomes of a different nature12–15.

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LEHRNBECHER, W., LUCAS, G., PICCIANO, D. et al. Progressive Neuromuscular and Skeletal Disorders in a Male with an Acrocentric Supernumerary Chromosome. Nature 227, 612–613 (1970). https://doi.org/10.1038/227612a0

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