title: [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
abstract: In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci leading to phenotypes similar to the 22q11.2 deletion syndrome (22q11.2DS). Sequencing of the TBX1 gene did not detect any mutations, except for some common neutral polymorphisms. For the first time in the Russian Federation, the diagnostic efficiency of 22q11.2DS appeared to be 32%, as a result of the application of a combination of genetic approaches for a large group of patients with suspected 22q11.2DS.
authors.forename: Iu O
authors.initials: IuO
authors.lastname: Kozlova
authors.forename: V V
authors.initials: VV
authors.lastname: Zabnenkova
authors.forename: N V
authors.initials: NV
authors.lastname: Shilova
authors.forename: M E
authors.initials: ME
authors.lastname: Min'zhenkova
authors.forename: V G
authors.initials: VG
authors.lastname: Antonenko
authors.forename: N P
authors.initials: NP
authors.lastname: Kotlukova
authors.forename: L V
authors.initials: LV
authors.lastname: Simonova
authors.forename: I A
authors.initials: IA
authors.lastname: Kazanceva
authors.forename: E G
authors.initials: EG
authors.lastname: Levchenko
authors.forename: T D
authors.initials: TD
authors.lastname: Bombardirova
authors.forename: T V
authors.initials: TV
authors.lastname: Zolotukhina
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D003581:Cytodiagnosis / Q000379:methods*; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D020825:T-Box Domain Proteins / Q000235:genetics
chemical_list: D020825:T-Box Domain Proteins; C108625:TBX1 protein, human