Identificação de tetrassomia 15q11-q13 por hibridação in situ fluorescente em uma paciente com distúrbio autístico
| Autor: | Eny Maria Goloni-Bertollo, Ana Luisa Aranha e Silva, Agnes Cristina Fett-Conte, Marileila Varella-Garcia, Sheila Adami Vayego-Lourenço |
|---|---|
| Přispěvatelé: | Universidade Estadual Paulista (Unesp), CEUV, Faculdade de Medicina de São José do Rio Preto (FAMERP), Univ. of Colorado Hlth. Sci. Center |
| Rok vydání: | 2002 |
| Předmět: |
4 aminobutyric acid receptor
receptores GABA Aneuploidy Gene duplication Chromosomes Human genetics In Situ Hybridization Fluorescence tetrasomy 15 Genetics medicine.diagnostic_test Karyotype karyotyping chromosome 15 chromosome 13 female Neurology Tetrasomy Chromosomal region Female RC321-571 GABA receptors Adolescent autism Neurosciences. Biological psychiatry. Neuropsychiatry Biology lcsh:RC321-571 chromosome 11 Chromosome 15 Receptors GABA medicine case report Humans aneuploidy human Autistic Disorder lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry fluorescence in situ hybridization Chromosome 13 Chromosomes Human Pair 15 Chromosomes Human Pair 13 Chromosomes Human Pair 11 autismo human chromosome medicine.disease hibridação in situ fluorescente Karyotyping Neurology (clinical) 15q11-q13 tetrassomia 15 Fluorescence in situ hybridization |
| Zdroj: | Arquivos de Neuro-Psiquiatria, Vol 60, Iss 2A, Pp 290-294 (2002) Arquivos de Neuro-Psiquiatria, Volume: 60, Issue: 2A, Pages: 290-294, Published: JUN 2002 Arquivos de Neuro-Psiquiatria v.60 n.2A 2002 Arquivos de neuro-psiquiatria Academia Brasileira de Neurologia instacron:ABNEURO Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP ResearcherID |
| ISSN: | 0004-282X |
| DOI: | 10.1590/s0004-282x2002000200021 |
| Popis: | Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:20:28Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:34:09Z : No. of bitstreams: 1 2-s2.0-0036593135.pdf: 272322 bytes, checksum: 761640e9ccd8d9a1143b3b769b575f96 (MD5) Made available in DSpace on 2014-05-27T11:20:28Z (GMT). No. of bitstreams: 0 Previous issue date: 2002-06-01 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. Departamento de Biologia IBILCE Stt. Univ. of S. Paulo (UNESP) Camp., Sao Jose do Rio Preto, SP Ctro. Univ. de Votuporanga CEUV, Votuporanga, SP Departamento de Biologia Molecular FAMERP, Sao Jose do Rio Preto, SP Department of Medicine Univ. of Colorado Hlth. Sci. Center, Denver, CO Departamento de Biologia IBILCE/UNESP, Rua Cristovão Colombo 2265, 15054-000 Sao Jose do Rio Preto SP Departamento de Biologia IBILCE Stt. Univ. of S. Paulo (UNESP) Camp., Sao Jose do Rio Preto, SP Departamento de Biologia IBILCE/UNESP, Rua Cristovão Colombo 2265, 15054-000 Sao Jose do Rio Preto SP |
| Databáze: | OpenAIRE |
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