title: Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences.
abstract: We present a patient with a 49,XXXXY chromosome constitution in whom the origin of the extra X chromosomes was determined by analysis of five polymorphic CA (or GT) dinucleotide repeat sequences. This class of DNA marker has recently been demonstrated to be hypervariable with heterozygosity values up to 80%. By polymerase chain reaction (PCR) analysis of the dinucleotide repeat length polymorphisms, we have shown that all four X chromosomes were of maternal origin.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: T H
authors.initials: TH
authors.lastname: Huang
authors.forename: F
authors.initials: F
authors.lastname: Greenberg
authors.forename: D H
authors.initials: DH
authors.lastname: Ledbetter
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000782:Aneuploidy; D006579:Heterozygote; D006801:Humans; D008297:Male; D009630:Nondisjunction, Genetic; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome