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. 1989 Mar;26(3):198–201. doi: 10.1136/jmg.26.3.198

An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.

M J Clarke 1, D A Thomson 1, M J Griffiths 1, J G Bissenden 1, A Aukett 1, J L Watt 1
PMCID: PMC1015584  PMID: 2523486

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.

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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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