title: 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.
authors.affiliation: Division of Genetics, Children's Hospital, Boston, MA 02115.
authors.forename: K G
authors.initials: KG
authors.lastname: Kupke
authors.forename: U
authors.initials: U
authors.lastname: Müller
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D015342:DNA Probes; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009693:Nucleic Acid Hybridization; D012150:Polymorphism, Restriction Fragment Length; D013577:Syndrome; D014314:Trisomy
chemical_list: D015342:DNA Probes