Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder
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
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