title: [The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndrome].
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.
authors.forename: I Y
authors.initials: IY
authors.lastname: Iourov
authors.forename: S G
authors.initials: SG
authors.lastname: Vorsanova
authors.forename: O S
authors.initials: OS
authors.lastname: Kurinnaaya
authors.forename: A D
authors.initials: AD
authors.lastname: Kolotii
authors.forename: I A
authors.initials: IA
authors.lastname: Demidova
authors.forename: V S
authors.initials: VS
authors.lastname: Kravets
authors.forename: Yu B
authors.initials: YB
authors.lastname: Yurov
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics