Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

T H Huang; F Greenberg; D H Ledbetter

doi:10.1007/BF00201553

Determination of the origin of nondisjunction in a 49,XXXXY male using hypervariable dinucleotide repeat sequences

Hum Genet. 1991 Apr;86(6):619-20. doi: 10.1007/BF00201553.

Authors

T H Huang¹, F Greenberg, D H Ledbetter

Affiliation

¹ Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.

PMID: 2026425
DOI: 10.1007/BF00201553

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics
Adolescent
Aneuploidy*
Heterozygote
Humans
Male
Nondisjunction, Genetic*
Polymerase Chain Reaction
Polymorphism, Genetic
Repetitive Sequences, Nucleic Acid*
X Chromosome*