title: Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays.
abstract: 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.
authors.affiliation: Key Laboratory for Reproduction and Genetics of Guangdong Higher Education Institutes, Key Laboratory for Major Obstetric Diseases of Guangdong Province, Guangzhou, PR China.
authors.forename: Weiqiang
authors.initials: W
authors.lastname: Liu
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Wei
authors.forename: Huimin
authors.initials: H
authors.lastname: Zhang
authors.forename: Guojiu
authors.initials: G
authors.lastname: Yu
authors.forename: Zhihua
authors.initials: Z
authors.lastname: Li
authors.forename: Min
authors.initials: M
authors.lastname: Chen
authors.forename: Xiaofang
authors.initials: X
authors.lastname: Sun
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D056915:DNA Copy Number Variations; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D025202:Molecular Diagnostic Techniques; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics; D017384:Sequence Deletion; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics