March 1997‐4 Year Old Girl with Ring Chromosome 22 and Brain Tumor
- 1 July 1997
- journal article
- case report
- Published by Wiley in Brain Pathology
- Vol. 7 (3) , 1027-1028
- https://doi.org/10.1111/j.1750-3639.1997.tb00902.x
Abstract
Case A four year old Caucasian girl with a constitutional ring chromosome 22 abnormality and developmental delay presented with increasing ataxia and a six week history of non‐specific symptoms. Imaging studies demonstrated a large third ventricular tumor with apparent involvement of the septum. Microscopic and immunohistochemical studies demonstrated an atypical teratoid/rhabdoid tumor. This tumor is compared and contrasted to peripheral malignant rhabdoid tumors and central primitive neuroectodermal tumors. The role of a putative tumor suppressor gene on the long arm of chromosome 22 in the pathogenesis of these tumors is also discussed.Keywords
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