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  A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., et al. (2008). A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. European Journal of Human Genetics, 16(3), 312-319. doi:10.1038/sj.ejhg.5201985.

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Genre: Zeitschriftenartikel
Alternativer Titel : Eur J Hum Genet

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5201985a.pdf (beliebiger Volltext), 226KB
 
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 Urheber:
Gilling, Mette, Autor
Lauritsen, Marlene Briciet, Autor
Møller, Morten, Autor
Henriksen, Karen Friis, Autor
Vicente, Astrid, Autor
Oliveira, Guiomar, Autor
Cintin, Christina, Autor
Eiberg, Hans, Autor
Andersen, Paal Skyt, Autor
Mors, Ole, Autor
Rosenberg, Thomas, Autor
Brøndum-Nielsen, Karen, Autor
Cotterill, Rodney M J, Autor
Lundsteen, Claes, Autor
Ropers, Hans-Hilger1, Autor           
Ullmann, Reinhard2, Autor           
Bache, Iben, Autor
Tümer, Zeynep, Autor
Tommerup, Niels, Autor
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Schlagwörter: translocation, deletion, autism, myopia, array CGH, chromosome 18
 Zusammenfassung: Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with unknown aetiology. Even though ASDs are suggested to be among the most heritable complex disorders, only a few reproducible mutations leading to susceptibility for ASD have been identified. In an attempt to identify ASD susceptibility genes through chromosome rearrangements, we investigated a female patient with childhood autism and high-grade myopia, and an apparently balanced de novo translocation, t(5;18)(q34;q12.2). Further analyses revealed a 3.2 Mb deletion encompassing 17 genes at the 18q break point and an additional deletion of 1.27 Mb containing two genes on chromosome 4q35. Q-PCR analysis of 14 of the 17 genes deleted on chromosome 18 showed that 11 of these genes were expressed in the brain, suggesting that haploinsufficiency of one or more genes may have contributed to the childhood autism phenotype of the patient. Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders.

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Sprache(n): eng - English
 Datum: 2008-01-09
 Publikationsstatus: Erschienen
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 Identifikatoren: eDoc: 408344
URI: translocation, deletion, autism, myopia, array CGH, chromosome 18
DOI: 10.1038/sj.ejhg.5201985
 Art des Abschluß: -

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Titel: European Journal of Human Genetics
  Alternativer Titel : Eur J Hum Genet
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 16 (3) Artikelnummer: - Start- / Endseite: 312 - 319 Identifikator: ISSN: 1018-4813