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Article
March 1979

Polysomy X Masquerading as Down's Syndrome: The Necessity of Being Earnest About Karyotype Analysis in the Diagnosis of Mongolism

Author Affiliations

Department of Pediatrics State University of New York Upstate Medical Center Syracuse, NY 13210

Am J Dis Child. 1979;133(3):253-254. doi:10.1001/archpedi.1979.02130030029001
Abstract

In 1866, J. Langdon H. Down, MD, medical superintendent of the Earlswood Hospital, published in the London Hospital Clinical Lectures and Reports a short note titled "An Ethnic Classification of Idiots."1 Perusing this medical classic from another age tells us something about the magnitude of cultural change that has taken place in the last century. Dr Down offered several pointers to the physician who might be consulted in cases of mental retardation. He suggested that one should make sure of the early history: Has the nurse "dosed the child with opium?" Or, "Were the calomel powders judiciously prescribed?" He then went on to describe the children "of the Mongolian type" that he had observed at Earlswood and in the outpatient department of the London Hospital. His description of the etiology of the syndrome was unfortunate"... degeneracy arising from tuberculosis in the parents." Nevertheless, his description of the phenotype of what

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