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Trisomy 8 mosaicism in a patient with heterotaxia

✍ Scribed by Fowzan S. Alkuraya; David J. Harris

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 112 KB
Volume: 73
Category: Article
ISSN: 1542-0752
DOI: 10.1002/bdra.20091

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✦ Synopsis

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare trisomy in humans with a characteristic phenotype. We report an infant with the characteristic CT8M phenotype in addition to heterotaxia. A number of chromosomal abnormalities have been reported in association with laterality defects but this is the first time heterotaxia is reported in CT8M. In addition to expanding CT8M phenotype, our report may provide insight into the mechanism of heterotaxia.

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