Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT
Zur Ablage hinzufügen
 Lokale TagsFreigabegeschichteDetailsÜbersicht
  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. Eur J Hum Genet, 18(3), 291-5. doi:10.1038/ejhg.2009.163.

Item is

 

einblenden: alle ausblenden: alle

Basisdaten

einblenden: ausblenden:
Datensatz-Permalink: https://hdl.handle.net/21.11116/0000-0002-E006-A Versions-Permalink: https://hdl.handle.net/21.11116/0000-0002-E007-9
Genre: Zeitschriftenartikel

Externe Referenzen

einblenden:
ausblenden:
externe Referenz:
http://www.ncbi.nlm.nih.gov/pubmed/19844253 (beliebiger Volltext)
Beschreibung:
-
OA-Status:

Urheber

einblenden:
ausblenden:
 Urheber:
Tzschach, A.1, Autor
Bisgaard, A. M.1, Autor
Kirchhoff, M.1, Autor
Graul-Neumann, L. M.1, Autor
Neitzel, H.1, Autor
Page, S.1, Autor
Ahmed, A.1, Autor
Muller, I.1, Autor
Erdogan, F.1, Autor
Ropers, H. H.1, Autor
Kalscheuer, V. M.1, Autor
Ullmann, R.1, Autor
Affiliations:
1Max Planck Society, ou_persistent13              

Inhalt

einblenden:
ausblenden:
Schlagwörter: Child, Preschool *Chromosome Aberrations *Chromosome Deletion Chromosomes, Human, Pair 10/*genetics Chromosomes, Human, Pair 13/*genetics Comparative Genomic Hybridization Facies Female Genome, Human/genetics Humans Infant Infant, Newborn Internet Male Pregnancy *Translocation, Genetic
 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.

Details

einblenden:
ausblenden:
Sprache(n):
 Datum: 2010
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: Anderer: 19844253
DOI: 10.1038/ejhg.2009.163
ISSN: 1476-5438 (Electronic) 1018-4813 (Linking)
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Eur J Hum Genet
  Alternativer Titel : European journal of human genetics : EJHG
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 18 (3) Artikelnummer: - Start- / Endseite: 291 - 5 Identifikator: -