Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus

Abstract excerpt

Chromosomal segregation anomalies often result in trisomy of a single chromosome, which can lead to a disastrous phenotype in the fetus. However, this trisomy is often "rescued" via loss of one of the triploid chromosomes. Depending on which chromosome is eliminated in the rescue, a condition known as uniparental disomy may arise where both copies of a particular chromosome pair originate from the same parent....

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