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. 1982 Jan;34(1):125–133.

Parental trisomy 21 mosaicism.

D J Harris, M L Begleiter, J Chamberlin, L Hankins, R E Magenis
PMCID: PMC1685202  PMID: 6211090

Abstract

A family with three children with trisomy 21 in which the mother is a phenotypically normal, trisomy 21/normal mosaic was studied. Chromosome 21 fluorescent heteromorphisms were used to document that two of the three number 21's in two of the Down syndrome offspring were of maternal origin. Five cytogenetic surveys in which both parents of a child with trisomy 21 were studied have been reviewed. From these data, it is estimated that 3% of couples producing a child with trisomy 21 can be explained by parental mosaicism. From 17 informative sibships, with one parent mosaic, the segregation ratio was estimated to be 0.43 +/- 0.11.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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