Your browser doesn't support javascript.
loading
Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder
Silva, Ana Elizabete; Vayego-Lourenço, Sheila Adami; Fett-Conte, Agnes Cristina; Goloni-Bertollo, Eny Maria; Varella-Garcia, Marileila.
Affiliation
  • Silva, Ana Elizabete; State University of Säo Paulo. IBILCE. Departamento de Biologia. Säo José do Rio Preto. BR
  • Vayego-Lourenço, Sheila Adami; Centro Universitário de Votuporanga. Votuporanga. BR
  • Fett-Conte, Agnes Cristina; FAMERP. Departamento de Biologia Molecular. Säo José do Rio Preto. BR
  • Goloni-Bertollo, Eny Maria; FAMERP. Departamento de Biologia Molecular. Säo José do Rio Preto. BR
  • Varella-Garcia, Marileila; University of Colorado Health Sciences. Department of Medicine. Denver. US
Arq. neuropsiquiatr ; 60(2A): 290-294, June 2002. ilus
Article in English | LILACS | ID: lil-309227
Responsible library: BR1.1
RESUMO
We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed
Subject(s)
Full text: Available Collection: International databases Database: LILACS Main subject: Autistic Disorder / Chromosome Aberrations / Chromosomes, Human / In Situ Hybridization, Fluorescence Type of study: Prognostic study Limits: Adolescent / Female / Humans Language: English Journal: Arq. neuropsiquiatr Journal subject: Neurology / Psychiatry Year: 2002 Document type: Article / Project document Affiliation country: Brazil / United States Institution/Affiliation country: Centro Universitário de Votuporanga/BR / FAMERP/BR / State University of Säo Paulo/BR / University of Colorado Health Sciences/US
Full text: Available Collection: International databases Database: LILACS Main subject: Autistic Disorder / Chromosome Aberrations / Chromosomes, Human / In Situ Hybridization, Fluorescence Type of study: Prognostic study Limits: Adolescent / Female / Humans Language: English Journal: Arq. neuropsiquiatr Journal subject: Neurology / Psychiatry Year: 2002 Document type: Article / Project document Affiliation country: Brazil / United States Institution/Affiliation country: Centro Universitário de Votuporanga/BR / FAMERP/BR / State University of Säo Paulo/BR / University of Colorado Health Sciences/US
...