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  • Title: [The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndrome].
    Author: Iourov IY, Vorsanova SG, Kurinnaaya OS, Kolotii AD, Demidova IA, Kravets VS, Yurov YB.
    Journal: Zh Nevrol Psikhiatr Im S S Korsakova; 2014; 114(1):49-53. PubMed ID: 24637817.
    Abstract:
    We examined 30 patients with a presumptive diagnosis of Prader-Willi and Angelman syndromes. In four patients, 15q11.2-q13 deletions were identified by cytogenetic techniques. The FISH method was used to study eight patients, in five of them microdeletions were also confirmed. High-resolution comparative genomic hybridization (CGH) and comparative genomic hybridization using DNA microarrays (array CGH) allowed to find 15q11.2-q13 deletions in five patients. These cases demonstrate the need for high-resolution post-genomic technologies (array CGH - molecular karyotyping) in the combination with classical cytogenetic and molecular cytogenetic techniques.
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