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.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Aarskog D. Down's syndrome transmitted through maternal mosaicism. Acta Paediatr Scand. 1969 Nov;58(6):609–614. doi: 10.1111/j.1651-2227.1969.tb04769.x. [DOI] [PubMed] [Google Scholar]
- DALLAIRE L., FRASER F. C. TWO UNUSUAL CASES OF FAMILIAL MONGOLISM. Can J Genet Cytol. 1964 Dec;6:540–547. doi: 10.1139/g64-069. [DOI] [PubMed] [Google Scholar]
- Hsu L. Y., Gertner M., Leiter E., Hirschhorn K. Paternal trisomy 21 mosaicism and Down's syndrome. Am J Hum Genet. 1971 Nov;23(6):592–601. [PMC free article] [PubMed] [Google Scholar]
- Kaffe S., Hsu L. Y., Hirschhorn K. Trisomy 21 mosaicism in a woman with two children with trisomy 21 Down's syndrome. J Med Genet. 1974 Dec;11(4):378–379. doi: 10.1136/jmg.11.4.378. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Nuzzo F., Stefanini M., Simoni G., Larizza L., Mottura A., Reali E., Franceschini P. A family with three sibs carrying trisomy 21. Ann Genet. 1975 Jun;18(2):111–116. [PubMed] [Google Scholar]
- Waxman S. H., Arakaki D. T. Familial mongolism by a G--G mosaic carrier. J Pediatr. 1966 Aug;69(2):274–278. doi: 10.1016/s0022-3476(66)80331-1. [DOI] [PubMed] [Google Scholar]
- Wilroy R. S., Jr, Summitt R. L., Atnip R. L. De-novo G-G-translocation Down's syndrome in two siblings. Lancet. 1969 Aug 23;2(7617):438–438. doi: 10.1016/s0140-6736(69)90150-0. [DOI] [PubMed] [Google Scholar]