Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder
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Data
2002-06-01
Autores
Silva, Ana Elizabete [UNESP]
Vayego-Lourenço, Sheila Adami
Fett-Conte, Agnes Cristina
Goloni-Bertollo, Eny Maria
Varella-Garcia, Marileila
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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.
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Palavras-chave
15q11-q13, Autism, Fluorescence in situ hybridization, GABA receptors, Tetrasomy 15, 4 aminobutyric acid receptor, adolescent, aneuploidy, autism, case report, chromosome 11, chromosome 13, chromosome 15, female, fluorescence in situ hybridization, genetics, human, human chromosome, karyotyping, Adolescent, Aneuploidy, Autistic Disorder, Chromosomes, Human, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 15, Female, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Receptors, GABA
Como citar
Arquivos de Neuro-Psiquiatria, v. 60, n. 2 A, p. 290-294, 2002.