title: Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.
abstract: BACKGROUND
  Uniparental disomy (UPD) is a rare cytogenetic event that has previously been reported mostly via genetic analysis of patients with phenotypes of recessive diseases. The incidence of UPD of any chromosome is estimated to be approximately1:3500 live births.
  
  
  METHODS
  In a case of disputed paternity involving a phenotypically normal male child, mother-child exclusions were observed at five short tandem repeat markers, which were all located on Chromosome 2. Ten additional dinucleotide repeat markers spanning both arms of Chromosome 2 were investigated. The results revealed that the child was homozygous for all markers tested with all alleles originating from a single paternal Chromosome 2, which was consistent with paternal UPD for Chromosome 2.
  
  
  CONCLUSIONS
  This case and other previous reports demonstrate that UPD poses a high risk for false exclusion and incorrect expert opinion. Furthermore, this case highlights that a conclusion of exclusion of paternity or maternity should not be postulated if multiple genetic incompatibilities are located on the same chromosome because of the occurrence of UPD.
authors.affiliation: Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, PR China.
authors.forename: Xueling
authors.initials: X
authors.lastname: Ou
authors.forename: Chao
authors.initials: C
authors.lastname: Liu
authors.forename: Suqin
authors.initials: S
authors.lastname: Chen
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Yu
authors.forename: Yinming
authors.initials: Y
authors.lastname: Zhang
authors.forename: Sujuan
authors.initials: S
authors.lastname: Liu
authors.forename: Hongyu
authors.initials: H
authors.lastname: Sun
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005220:Fathers; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010334:Paternity; D024182:Uniparental Disomy
chemical_list: D005819:Genetic Markers