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Article

A chromosome 21‐derived minute marker in a mosaic trisomy 21 background: Implications for risk assessments in marker chromosome cases

11 Feb 2004

Abstract excerpt

We report a prenatal case of a chromosome 21-derived minute supernumerary marker, found as a mosaic along with a trisomy 21 cell line at amniocentesis. Follow-up analysis of other fetal tissues confirmed the mosaicism and also disclosed a normal cell line. It is likely that the marker reflects a mutation event that resulted in trisomy rescue early in embryonic development. Had the trisomy 21 cell line not been...

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Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 15108209
DOI: 10.1002/ajmg.a.20682

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