Skip Navigation LinksHome > November 2008 - Volume 30 - Issue 11 > Acute Lymphoblastic Leukemia in a Patient With Miller-Dieker...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31818a958a
Clinical and Laboratory Observations

Acute Lymphoblastic Leukemia in a Patient With Miller-Dieker Syndrome

Czuchlewski, David R. MD*; Andrews, Jared MD*; Madden, Richard MD; Clericuzio, Carol L. MD; Zhang, Qian-Yun MD, PhD*

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A 15-month-old girl with Miller-Dieker syndrome, a contiguous gene deletion syndrome involving chromosome 17p13.3 and resulting in lissencephaly, was diagnosed with precursor B-cell acute lymphoblastic leukemia. Cytogenetic analysis identified both the previously detected 17p13.3 deletion and additional complex numerical and structural abnormalities, including loss of chromosome 9, isochromosome 9q and interstitial deletion of 20q. This is, to our knowledge, the first report of acute leukemia in the setting of Miller-Dieker syndrome. Herein we review the literature regarding Miller-Dieker syndrome, with particular attention to the presence of several candidate tumor suppressor genes within the deleted material.

© 2008 Lippincott Williams & Wilkins, Inc.


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