Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.

Xueling Ou, Chao Liu, Suqin Chen, Jianfeng Yu, Yinming Zhang, Sujuan Liu, Hongyu Sun

Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, PR China.

Transfusion 2013 Jun

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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. 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. 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. © 2012 American Association of Blood Banks.

Citation

Xueling Ou, Chao Liu, Suqin Chen, Jianfeng Yu, Yinming Zhang, Sujuan Liu, Hongyu Sun. Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case. Transfusion. 2013 Jun;53(6):1266-9