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Discordant results between fetal karyotyping and non‐invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue

27 Mar 2013

Abstract excerpt

Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF-PCR), as well as non-invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results...

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Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 23533085
DOI: 10.1002/pd.4069

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