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Article

Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21

28 Apr 2003

Abstract excerpt

OBJECTIVES: Trisomy 21 mosaicism associated with a structural rearrangement of chromosome 21 is uncommon. We report on two prenatal diagnoses in which karyotypes showed mosaicism with an aberrant cell line, including a structural rearrangement of chromosome 21. METHODS: Both these cases were associated with increased nuchal translucency. Conventional and molecular cytogenetic analyses were performed on uncultured...

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Share to Genetic Syndromes and Imprinting
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PMID: 12813759
DOI: 10.1002/pd.620

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