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March 1966

Morphological Philadelphia Chromosome: Occurrence in a Child With Congenital Anomalies

Author Affiliations

From the Department of Pediatrics, Ohio State University College of Medicine (Drs. Kontras, Robbins, and Ambuel), and the Children's Hospital Research Foundation.

Am J Dis Child. 1966;111(3):324-326. doi:10.1001/archpedi.1966.02090060134021

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.

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