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Case Reports
. 1977 Jun;14(3):221-3.
doi: 10.1136/jmg.14.3.221.

Reproduction in a woman with low percentage t(21q21q) mosaicism

H F Mark, T Mendoza, D Abuelo, L J Beauregard, J B May, P H LaMarche
Case Reports

Reproduction in a woman with low percentage t(21q21q) mosaicism

H F Mark et al. J Med Genet. 1977 Jun.

Abstract

The birth of a child is described with Down syndrome followed by the conception of a fetus bearing the t(21q21q) chromosome in 100% of their cells in a women mosiac for the translocation in less than 10% of 2 of her examined tissues and in none of the cells in her peripheral blood. Various hypotheses for explaining the above findings are discussed. The importance of examining as many parental tissues as possible for the detection of low percentage mosiacism is stressed.

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