Parental origin of the extra chromosome in trisomy 18.

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.

journal_name

Am J Hum Genet

authors

Kupke KG,Müller U

subject

Has Abstract

pub_date

1989-10-01 00:00:00

pages

599-605

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

45

pub_type

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