title: [Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene].
abstract: OBJECTIVE
  Microduplications of the long arm of the X chromosome including the MECP2 gene are relatively common causes of neurodevelopmental disorders in males. Authors analyzed clinical presentations of this disease in children.
  
  
  METHODS
  Authors performed a clinical and genetic analysis of four cases using contemporary cytogenetic, molecular cytogenetic studies (FISH, array CGH) and X chromosome inactivation analysis.
  
  
  CONCLUSIONS
  We described somatic, neurologic and mental symptoms of the patients. The genetic imbalance impact on the patients' phenotype, necessity of comprehensive family studies for correct genetic diagnosis and effective genetic counseling in cases of microduplications of the long arm of the X chromosome including the MECP2 gene are discussed.
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow.
authors.forename: V Yu
authors.initials: VY
authors.lastname: Voinova
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow.
authors.forename: S G
authors.initials: SG
authors.lastname: Vorsanova
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow.
authors.forename: Yu B
authors.initials: YB
authors.lastname: Yurov
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics.
authors.forename: A D
authors.initials: AD
authors.lastname: Kolotiy
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow.
authors.forename: Yu I
authors.initials: YI
authors.lastname: Davidova
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Pirogov Russian National Research Medical University, Moscow.
authors.forename: I A
authors.initials: IA
authors.lastname: Demidova
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow.
authors.forename: P V
authors.initials: PV
authors.lastname: Novikov
authors.affiliation: Mental Health Research Center Russian Academy of Sciences, Moscow; Research Clinical Institute of Pediatrics; Moscow State University of Psychology and Education, Moscow ,Russian Medical Academy of Postgraduate Education, Moscow.
authors.forename: I Yu
authors.initials: IY
authors.lastname: Iourov
mesh_terms: D002675:Child, Preschool; D058674:Chromosome Duplication; D041321:Chromosomes, Human, X / Q000235:genetics*; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome; D049951:X Chromosome Inactivation
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2