title: [Clinical genealogical and molecular genetic study of patients with mental retardation].
abstract: The results of clinical, genealogical, cytogenetic and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the 7-th Framework Program. The aim of the project is to improve diagnostics of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and gene's aberrations and to find the new gene-candidates that cause mental retardation. All patients have normal chromosome number (46XY or 46XX). The cases with fragile-X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA analysis) ofsubtelomeric regions and array-based comparative genomic hybridisation (array CGH screening). In 10 cases known pathogenic CNV's were identified, 11 cases are unknown aberrations; their pathogenicity is being determined. The rest cases are known nonpathogenic gene rearrangements. Obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation. The further studies will allow to identificate genes candidates and certain mutations in these genes that may be associated with this pathology.
authors.forename: N V
authors.initials: NV
authors.lastname: Hryshchenko
authors.forename: A M
authors.initials: AM
authors.lastname: B'ichkova
authors.forename: A B
authors.initials: AB
authors.lastname: Lyvshyts
authors.forename: S A
authors.initials: SA
authors.lastname: Kravchenko
authors.forename: V N
authors.initials: VN
authors.lastname: Pampukha
authors.forename: A A
authors.initials: AA
authors.lastname: Solov'ev
authors.forename: A M
authors.initials: AM
authors.lastname: Kucherenko
authors.forename: P F
authors.initials: PF
authors.lastname: Tatarskiĭ
authors.forename: N A
authors.initials: NA
authors.lastname: Afanas'eva
authors.forename: E V
authors.initials: EV
authors.lastname: Dubrovskaia
authors.forename: Ie Y
authors.initials: IeY
authors.lastname: Patskun
authors.forename: N O
authors.initials: NO
authors.lastname: Zymak-Zakutnaia
authors.forename: T V
authors.initials: TV
authors.lastname: Nykytchina
authors.forename: S Iu
authors.initials: SIu
authors.lastname: Lohysh
authors.forename: L A
authors.initials: LA
authors.lastname: Lyvshyts
mesh_terms: D002869:Chromosome Aberrations; D017353:Gene Deletion; D016678:Genome; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014455:Ukraine / Q000453:epidemiology