Complete Paternal Uniparental Disomy of Chromosome 2 in an Asian Female Identified by Short Tandem Repeats and Whole Genome Sequencing

作者：Xiaochuan Zhang, Zhaojun Ding, Ruwen He, Jiying Qi, Zijun Zhang, Bin Cui · 发表于：Cytogenetic and Genome Research · 年份：2019 · DOI：10.1159/000499893 · 被引用次数：15 · 研究领域：Genomic variations and chromosomal abnormalities、Prenatal Screening and Diagnostics、Genetic Syndromes and Imprinting

Uniparental disomy (UPD) is a rare type of chromosomal aberration that has sometimes been detected in paternity testing. We examined a 3-person family (father, mother, daughter) first by using short tandem repeat markers, which revealed 4 markers, TPOX, D2S1338, D2S1772, and D2S441, on chromosome 2 that were not transmitted in a Mendelian style. We then performed whole genome sequencing (WGS) to determine the range of the UPD. Chromosome 2 in the daughter showed a complete paternal UPD. To the best of our knowledge, this is the 4th case of complete paternal UPD of chromosome 2 with no clinical phenotype. Our study suggests that WGS, when performed to enhance the accuracy and reliability of parentage testing, can provide a powerful method to detect an UPD.