Philadelphia chromosome

Introduction

The Philadelphia chromosome or Philadelphia translocation refers to a chromosomal abnormality resulting from a reciprocal translocation between chromosome 9 and 22. This is described by the genetic molecular shorthand t(9;22)(q34;q11)).

The translocation is associated with the disease chronic myelogenous leukemia (CML).

| Cell Division - Meiosis | Cell Division - Mitosis

History

The following abstract is from a 2007 paper written by one of the original discoverers of this chromosomal abnormality and its association with hronic myelogenous leukemia.

Discovery of the Philadelphia chromosome: a personal perspective

J Clin Invest. 2007 Aug;117(8):2033-5. Nowell PC.

Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-6082, USA. nowell@mail.med.upenn.edu

Abstract

Almost 50 years ago, David Hungerford and I noticed an abnormally small chromosome in cells from patients with chronic myelogenous leukemia (CML). This article is a personal perspective of the events leading to the discovery of this chromosome, which became known as the Philadelphia chromosome. As technology advanced over subsequent decades, the translocation resulting in the Philadelphia chromosome has been identified, its role in the development of CML has been confirmed, and a therapy directed against the abnormal protein it produces has shown promising results in the treatment of patients with CML.