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Human Molecular Genetics 2009 18(R1):R84-R93; doi:10.1093/hmg/ddp084
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© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Constitutional aneuploidy and cancer predisposition{dagger}

Ithamar Ganmore, Gil Smooha and Shai Izraeli*

Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan; Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel

* To whom correspondence should be addressed at: Pediatric Hemato-Oncology, Functional Genomics and Childhood Leukemia Research Section, Sheba Medical Center, Tel Hashomer 52621, Israel. Tel: +972 35303037; Fax: +972 45303031; Email: shai.izraeli{at}sheba.health.gov.il

Received January 19, 2009; Accepted February 17, 2009

Constitutional aneuploidies are rare syndromes associated with multiple developmental abnormalities and the alterations in the risk for specific cancers. Acquired somatic chromosomal aneuploidies are the most common genetic aberrations in sporadic cancers. Thus studies of these rare constitutional aneuploidy syndromes are important not only for patient counseling and clinical management, but also for deciphering the mechanisms by which chromosomal aneuploidy affect cancer initiation and progression. Here we review the major constitutional aneuploidy syndromes and suggest some general mechanisms for the associated cancer predisposition.


{dagger} The manuscript has been written as partial fulfillment of the requirement for PhD degree of Ithamar Ganmore and Gil Smooha, Sackler School of Medicine, Tel Aviv University.


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