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Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder
Registration in:
Arquivos de Neuro-Psiquiatria, v. 60, n. 2 A, p. 290-294, 2002.
0004-282X
10.1590/S0004-282X2002000200021
S0004-282X2002000200021
WOS:000175890500022
2-s2.0-0036593135.pdf
2-s2.0-0036593135
Author
Silva, Ana Elizabete
Vayego-Lourenço, Sheila Adami
Fett-Conte, Agnes Cristina
Goloni-Bertollo, Eny Maria
Varella-Garcia, Marileila
Abstract
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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