An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.
- 1 March 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (3) , 198-201
- https://doi.org/10.1136/jmg.26.3.198
Abstract
A baby girl with some of the stigmata of Down's syndrome was found to be a mosaic with three different cell lines: 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, -21,+t(21q21q). The chromosome rearrangements detected in this patient appear to have arisen de novo. In the normal cell line the terminal end of the p arm of one chromosome 21 is thought to have been damaged. It seems probable that this is related to the other chromosomal anomalies found.Keywords
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