Uniparental disomy: can SNP array data be used for diagnosis?

@article{Tucker2012UniparentalDC,
  title={Uniparental disomy: can SNP array data be used for diagnosis?},
  author={Tracy Tucker and Kamilla Schlade-Bartusiak and Patrice Eydoux and Tanya N. Nelson and Lindsay Brown},
  journal={Genetics in Medicine},
  year={2012},
  volume={14},
  pages={753-756}
}
Purpose:Single-nucleotide polymorphism microarray analysis identifies copy-number variants and blocks of homozygosity, suggestive of consanguinity or uniparental disomy. The purpose of this study was to validate chromosomal microarray analysis for the identification of uniparental disomy in a clinical laboratory.Methods:In phase I of this retrospective study, nine cases with uniparental disomy for chromosomes 7 (n = 1), 14 (n = 1), and 15 (n = 7), identified by conventional polymorphic… CONTINUE READING
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