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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1990 Dec;47(6):968–972.

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.

S E Antonarakis 1, P A Adelsberger 1, M B Petersen 1, F Binkert 1, A A Schinzel 1
PMCID: PMC1683910  PMID: 1978562

Abstract

Down syndrome is rarely due to a de novo duplication of chromosome 21 [dup(21q)]. To investigate the origin of the dup(21q) and the nature of this chromosome, we used DNA polymorphisms in 10 families with Down syndrome due to de novo dup(21q). The origin of the extra chromosome 21q was maternal in six cases and paternal in four cases. Furthermore, the majority (eight of 10) of dup(21q) chromosomes were isochromosomes i(21q) (four were paternal in origin, and four were maternal in origin); however, in two of 10 families the dup(21q) chromosome appeared to be the result of a Robertsonian translocation t(21q;21q) (maternal in origin in both cases).

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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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