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

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

Journal of Medical Genetics 14(3): 221-223

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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Accession: 041242454

Download citation: RISBibTeXText

PMID: 142158

DOI: 10.1136/jmg.14.3.221

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