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• W1968821256 abstract "We previously observed low level mosaicism (2–4% normal cells) in phytohemagglutinin-stimulated peripheral blood lymphocytes (PBL) in 29% of a small group of elderly persons with Down syndrome (DS). An analysis of cytogenetic data on 154 trisomy 21 cases (age 1 day to 68 years) showed that the proportion of diploid cells in such cultures significantly increased (P < 0.005) with advancing age. Thus, the “;occult”; mosaicism in PBL of the elderly persons with DS is likely due to the accumulation of cells that have lost a chromosome 21. A consequence of chromosome 21 loss could be uniparental disomy of the 2n cells, a factor that might have significant biological consequences if some chromosome 21 genes are imprinted. Loss of a chromosome 21 from trisomic cells might result in tissue-specific mosaicism and “;classical”; mosaicism in different age groups. Chromosome 21 loss might also be relevant to the development of Alzheimer-type dementia in DS and in the general population. © 1993 Wiley-Liss, Inc." @default.
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• W1968821256 date "1993-03-01" @default.
• W1968821256 modified "2023-10-14" @default.
• W1968821256 title "Age-associated chromosome 21 loss in Down syndrome: Possible relevance to mosaicism and Alzheimer disease" @default.
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• W1968821256 doi "https://doi.org/10.1002/ajmg.1320450513" @default.
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