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

Arquivos de Neuro-Psiquiatria

Ana Elizabete Silva²  Sheila Adami Vayego-lourenço¹  Agnes Cristina Fett-conte¹  Eny Maria Goloni-bertollo¹  Marileila Varella-garcia¹ 

[1] ,State University of São Paulo IBILCE Departamento de BiologiaSão José do Rio Preto SP ,Brasil

关键词: tetrasomy 15;    15q11-q13;    autism;    fluorescence in situ hybridization;    GABA receptors;    tetrassomia 15;    15q11-q13;    autismo;    hibridação in situ fluorescente;    receptores GABA;   

DOI  :  10.1590/S0004-282X2002000200021

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License