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Susceptibility to chromosome malsegregation in lymphocytes of women who had a Down syndrome child in young age.

Migliore L, Boni G, Bernardini R, Trippi F, Colognato R, Fontana I, Coppedè F, Sbrana I

Department of Human and Environmental Sciences, University of Pisa, Via S. Giuseppe 22, 56126 Pisa, Italy. l.migliore@geog.unipi.it

Recent findings seem to converge towards a unified hypothesis trying to relate Down's syndrome (DS), trisomy 21 and Alzheimer's disease (AD). The majority of DS individuals develop neuropathological characteristics of AD by the age of 40. Previous cytogenetic studies performed by us showed an increased frequency of aneuploidy in peripheral lymphocytes and fibroblasts of AD patients and a preferential occurrence of chromosome 21 in malsegregation events. An increased frequency of AD among young mothers of individuals with DS (MDS) is reported. This study investigates the cytogenetic characteristics and the predisposition to chromosome malsegregation of peripheral blood lymphocytes in a group of women (n = 35) who had a Down syndrome child in young age (<35 years) and in a control group (n = 30). We applied the micronucleus assay and the dual-color FISH in order to assess the susceptibility to malsegregation events. The results indicate a higher frequency of binucleated micronucleated cells in MDS in respect to the control group (16.1+/-9.1 per thousand versus 8.7+/-5.4 per thousand). Moreover, our data reveal that peripheral lymphocytes of MDS are more prone to chromosome non-disjunction with both chromosomes, 13 and 21, equally involved.

Published 18 April 2006 in Neurobiol Aging, 27(5): 710-6.
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