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  Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.

Tzschach, A., Bisgaard, A.-M., Kirchhoff, M., Graul-Neumann, L. M., Neitzel, H., Page, S., et al. (2010). Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG, 18(3), 291-295. doi:10.1038/ejhg.2009.163.

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Genre: Zeitschriftenartikel
Alternativer Titel : Eur. J. Hum. Genet.

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 Urheber:
Tzschach, Andreas1, Autor           
Bisgaard, Anne-Marie, Autor
Kirchhoff, Maria, Autor
Graul-Neumann, Luitgard M., Autor
Neitzel, Heidemarie, Autor
Page, Stephanie, Autor
Ahmed, Alischo2, Autor           
Müller, Ines2, Autor           
Erdogan, Fikret1, Autor           
Ropers, Hans-Hilger1, Autor           
Kalscheuer, Vera M.3, Autor           
Ullmann, Reinhard2, 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              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Schlagwörter: deletion 10q22; array CGH, C10orf11; mental retardation; balanced chromosome translocation
 Zusammenfassung: Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patients. Patient 1 had a 7.9 Mb deletion in 10q21.3–q22.2 and suffered from severe feeding problems, facial dysmorphisms and profound mental retardation. Patients 2 and 3 had nearly identical deletions of 3.2 and 3.6 Mb, the proximal breakpoints of which were located at an identical low-copy repeat. Both patients were mentally retarded; patient 3 also suffered from growth retardation and hypotonia. We also report on the results of breakpoint analysis by array painting in a mentally retarded patient with a balanced chromosome translocation 46,XY,t(10;13)(q22;p13)dn. The breakpoint in 10q22 was found to disrupt C10orf11, a brain-expressed gene in the common deleted interval of patients 1–3. This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients.

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Sprache(n): eng - English
 Datum: 2010-03-01
 Publikationsstatus: Erschienen
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Titel: European Journal of Human Genetics : EJHG
  Alternativer Titel : Eur. J. Hum. Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 18 (3) Artikelnummer: - Start- / Endseite: 291 - 295 Identifikator: ISSN: 1018-4813