Abstract THE PHILADELPHIA chromosome (Ph'), described by Nowell1 in 1960, occurs in adult patients with chronic myelogenous leukemia. It is generally assumed to be one of the small acrocentrics with deletion to account for the small size and median centromere. A morphologically similar chromosome was reported by Hall2 in 1963 in two trisomy 21 male infants with Down's syndrome who died in infancy with no evidence of leukemia. The present report describes an 8-yearold girl with multiple congenital anomalies and no evidence of hematologic disease, whose blood and marrow cultures contain cells with a morphologic Ph' chromosome. Report of a Case An 8-year-old white girl was admitted to the Columbus Children's Hospital for treatment of a urinary tract infection. She had been diagnosed as "mongoloid" at the age of 11 months and was markedly retarded in growth and development. She sat at 11 months and walked at 20 months. References 1. Nowell, P., and Hungerford, D.A.: A Minute Chromosome in Human Chronic Granulocytic Leukemia , Science 132:1497, 1960. 2. Hall, B.: Down's Syndrome With a Morphologic Philadelphia Chromosome , Lancet 1:558, 1963.Crossref 3. Ackerman, G.A.: Substituted Naphthal AS Phosphate Derivatives for the Localization of Leukocyte Alkaline Phosphatase Activity , Lab Invest 11:563-567, 1962. 4. Walker, N.F.: The Use of Dermal Configurations in the Diagnosis of Mongolism , Pediat Clin N Amer May 1958, p 531. 5. Moorhead, P.S., et al: Chromosome Preparations of Leukocytes Cultured From Human Peripheral Blood , Exp Cell Res 20:613, 1960.Crossref 6. Ilberg, P.L.T.; Lee, C.W.G.; and Winn, S.M.: Incomplete Trisomy in a Mongoloid Child Exhibiting Minimal Stigmata , Med J Aust 48:182, 1961. 7. Taft, P.D.; Dodge, P.R.; and Atkins, L.: Mental Retardation and Multiple Congenital Anomalies , Amer J Dis Child 109:554 ( (June) ) 1965.Crossref 8. Baikie, A.C., et al: A Possible Specific Chromosome Abnormality in Human Chronic Myeloid Leukemia , Nature 188:1165, 1960.Crossref 9. Tough, I.M., et al: Cytogenetic Studied in Chronic Myeloid Leukemia and Acute Leukemia Associated With Mongolism , Lancet 1:411, 1961.Crossref 10. Whang, J., et al: The Distribution of the Philadelphia Chromosome in Patients With Chronic Myelogenous Leukemia , Blood 22:664, 1963. 11. Weber, W.W., et al: Trisomy 17-18 (E): Studies in Long Term Survival With Report of Two Autopsied Cases , Pediatrics 34:533, 1964.
American Journal of Diseases of Children – American Medical Association
Published: Mar 1, 1966