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BMC Medical Genetics

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Open Access 01-12-2009 | Case report

Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?

Authors: Gunnar Houge, Helle Lybæk, Sasha Gulati

Published in: BMC Medical Genetics | Issue 1/2009

Abstract

Background

Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations.

Case presentation

In a markedly dysmorphic child with heart malformations and developmental delay, CGH analysis of newborn blood DNA suggested a 50% dose increase of chromosomes 8 and 18, despite a normal standard karyotype investigation. Subsequent FISH analysis revealed leukocytes with four chromosomes 8 and four chromosomes 18. The child's phenotype had resemblance to both mosaic trisomy 8 and mosaic trisomy 18. The double tetrasomy was caused by mitotic malsegregation of all four chromatids of both chromosome pairs. A possible origin of such an error is incomplete correction of a tetraploid state resulting from failed cytokinesis or mitotic slippage during early embryonic development.

Conclusion

This unique case suggests that embryonic cells may have a mechanism for tetraploidy correction that involves mitotic pairing of homologous chromosomes.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/10/42/prepub

Title: Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?
Authors: Gunnar Houge
Helle Lybæk
Sasha Gulati
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2009
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-10-42

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Springer Medicine

Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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