%0 Generic %A W., Liu %A R., Zhang %A J., Wei %A H., Zhang %A G., Yu %A Z., Li %A M., Chen %A X., Sun %D 2015 %T Supplementary Material for: Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays %U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Rapid_Diagnosis_of_Imprinting_Disorders_Involving_Copy_Number_Variation_and_Uniparental_Disomy_Using_Genome-Wide_SNP_Microarrays/5128336 %R 10.6084/m9.figshare.5128336.v1 %2 https://karger.figshare.com/ndownloader/files/8716465 %2 https://karger.figshare.com/ndownloader/files/8716468 %K Chromosomal microarray analysis %K Copy number variation %K Imprinting disorders %K Single nucleotide polymorphism %K Uniparental disomy %X Imprinting disorders, such as Beckwith-Wiedemann syndrome (BWS), Prader-Willi syndrome (PWS) and Angelman syndrome (AS), can be detected via methylation analysis, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), or other methods. In this study, we applied single nucleotide polymorphism (SNP)-based chromosomal microarray analysis to detect copy number variations (CNVs) and uniparental disomy (UPD) events in patients with suspected imprinting disorders. Of 4 patients, 2 had a 5.25-Mb microdeletion in the 15q11.2q13.2 region, 1 had a 38.4-Mb mosaic UPD in the 11p15.4 region, and 1 had a 60-Mb detectable UPD between regions 14q13.2 and 14q32.13. Although the 14q32.2 region was classified as normal by SNP array for the 14q13 UPD patient, it turned out to be a heterodisomic UPD by short tandem repeat marker analysis. MS-MLPA analysis was performed to validate the variations. In conclusion, SNP-based microarray is an efficient alternative method for quickly and precisely diagnosing PWS, AS, BWS, and other imprinted gene-associated disorders when considering aberrations due to CNVs and most types of UPD. %I Karger Publishers