Abstract
This paper describes a family with 3 affected sibs with regular trisomy 21 Down syndrome. The condition seems to be transmitted from a phenotypically normal mother in whom G-trisomy mosaicism was identified. Giemsa banding depicted trisomy 21 mosaicism in cells from the mother. Chromosomes from the children showed a trisomy 21 in all the cells analysed.
Full text
PDF
Images 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]
- 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]
- Seabright M. A rapid banding technique for human chromosomes. Lancet. 1971 Oct 30;2(7731):971–972. doi: 10.1016/s0140-6736(71)90287-x. [DOI] [PubMed] [Google Scholar]