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Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring

, : Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring. Journal of Medical Genetics 21(4): 310-314

An account is given of the cytogenetic investigations of a girl with Down's syndrome found to have a dicentric duplication of chromosome 21. This tandem type of rearrangement was interpreted as a recombinant derived from a single meiotic crossover between a maternal ring 21 and its normal homologue. A population of cells was also found in which breakage of the dicentric resulted in a chromosome 21 with a small terminal deletion. The mother and the proband's younger brother, who was also a ring 21 heterozygote, were both clinically normal.


PMID: 6238166

DOI: 10.1136/jmg.21.4.310

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