title: [Variations of heterochromatic chromosomal regions and chromosome abnormalities in children with autism: identification of genetic markers in autistic spectrum disorders].
abstract: In the present study, the cytogenetic and molecular cytogenetic analysis of 90 children with autism and their mothers (18 subjects) was carried out. Chromosome fragility and abnormalities were found in four cases: mos 47,XXX[98]/ 46,XX[2]; 46,XY,r(22)(p11q13); 46,XY,inv(2)(p11.2q13),16qh-; 46Y,fra(X)(q27.3)16qh-. Using C-banding and quantitative fluorescent in situ hybridization (FISH), the significantly increased incidence of heterochromatic region variation was shown in autism as compared to the controls (48 and 16%, respectively). Pericentric 9phqh inversion was not characteristic of the patients with autism whereas heterochromatic variations 1phqh, 9qh+ and 16qh- were more frequent in autism (p<0,05). Basing on the data obtained, a possible role of position effect in autism pathogenesis as well as a potential of heterochromatic region variation analysis for the search of biological markers of autistic spectrum disorders are discussed.
authors.forename: S G
authors.initials: SG
authors.lastname: Vorsanova
authors.forename: I Iu
authors.initials: IIu
authors.lastname: Iurov
authors.forename: I A
authors.initials: IA
authors.lastname: Demidova
authors.forename: V Iu
authors.initials: VIu
authors.lastname: Voinova-Ulas
authors.forename: V S
authors.initials: VS
authors.lastname: Kravets
authors.forename: I V
authors.initials: IV
authors.lastname: Solov'ev
authors.forename: N L
authors.initials: NL
authors.lastname: Gorbachevskaia
authors.forename: Iu B
authors.initials: IuB
authors.lastname: Iurov
mesh_terms: D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers; D006570:Heterochromatin / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D008297:Male; D011379:Prognosis
chemical_list: D005819:Genetic Markers; D006570:Heterochromatin; D004247:DNA