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April 15, 1974

The Philadelphia or Short Y Chromosome

Author Affiliations

Letterman Army Medical Center San Francisco

JAMA. 1974;228(3):286. doi:10.1001/jama.1974.03230280014004

To the Editor.—  In the case of the patient with erythroleukemia and Philadelphia (Ph') chromosome described by Pacheco et al (226:787, 1973), the sex of the patient is not stated. Since erythrocytic glucose-6-phosphate dehydrogenase deficiency was also present, we suspect that the patient was a man.We have previously indicated the need for physicians to be alert for the presence of a short Y chromosome in males with apparent Ph' chromosome (Ann Intern Med 77:223, 1972). Recently, Warburton and Bluming1 described a patient who was remarkably similar to the one reported by Pacheco et al. The initial karyotype in this patient with erythremic myelosis was interpreted as showing a Ph' chromosome without other abnormality. A second marrow culture, stained with quinacrine mustard and examined with fluorescent microscopy, demonstrated that the abnormal chromosome was derived from a Y chromosome that had lost the characteristic brilliantly fluorescent material of its long arms.