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. 1989 Oct;45(4):599–605.

Parental origin of the extra chromosome in trisomy 18.

K G Kupke 1, U Müller 1
PMCID: PMC1683505  PMID: 2577470

Abstract

The parental origin of the supernumerary chromosome 18 was investigated by RFLP analysis in 23 individuals with Edwards syndrome. All families were studied with the DNA probe pERT-25, which recognizes a locus of highly polymorphic tandemly repeated DNA sequences on chromosome 18. The extra chromosome was found to be of maternal origin in 19 patients (95%), of paternal origin in one patient (5%), and indeterminate in three patients. In one of the three indeterminate cases, a mosaic, an apparent recombination event had taken place within the pERT-25 locus. The overall high degree of informativeness of pERT-25 illustrates the power of a chromosome-specific variable-number tandem repeat probe (VNTR) in parental origin studies of aneuploidy.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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