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Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array

Authors
  • Zhou, Lili1
  • Zheng, Zhaoke1
  • Xu, Yunzhi1
  • Lv, Xiaoxiao1
  • Xu, Chenyang1
  • Xu, Xueqin1
  • 1 Wenzhou Central Hospital, Wenzhou, 325000, People’s Republic of China , Wenzhou (China)
Type
Published Article
Journal
Molecular Cytogenetics
Publisher
Springer (Biomed Central Ltd.)
Publication Date
Mar 19, 2021
Volume
14
Issue
1
Identifiers
DOI: 10.1186/s13039-021-00537-2
Source
Springer Nature
Keywords
License
Green

Abstract

BackgroundThe phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This study involved a retrospective analysis of 4512 prenatal diagnosis samples and explored the molecular characteristics and prenatal phenotypes of UPD using a single nucleotide polymorphism (SNP) array.ResultsOut of the 4512 samples, a total of seven cases of UPD were detected with an overall frequency of 0.16%. Among the seven cases of UPD, two cases are associated with chromosomal aberrations (2/7), four cases (4/7) had abnormal ultrasonographic findings. One case presented with iso-UPD (14), and two case presented with mixed hetero/iso-UPD (15), which were confirmed by Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as maternal UPD (15) associated with Prader-Willi syndrome (PWS). Four cases had iso-UPD for chromosome 1, 3, 14, and 16, respectively; this is consistent with the monosomy rescue mechanism. Another three cases presented with mixed hetero/isodisomy were consistent with a trisomy rescue mechanism.ConclusionThe prenatal phenotypes of UPD are variable and molecular analysis is essential for making a correct diagnosis and genetic counselling of UPD. The SNP array is a useful genetic test in prenatal diagnosis cases with UPD.

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