English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  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.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7BB5-F Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7BB6-D
Genre: Journal Article
Alternative Title : Eur. J. Hum. Genet.

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Tzschach, Andreas1, Author              
Bisgaard, Anne-Marie, Author
Kirchhoff, Maria, Author
Graul-Neumann, Luitgard M., Author
Neitzel, Heidemarie, Author
Page, Stephanie, Author
Ahmed, Alischo2, Author              
Müller, Ines2, Author              
Erdogan, Fikret1, Author              
Ropers, Hans-Hilger1, Author              
Kalscheuer, Vera M.3, Author              
Ullmann, Reinhard2, Author              
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              

Content

show
hide
Free keywords: deletion 10q22; array CGH, C10orf11; mental retardation; balanced chromosome translocation
 Abstract: 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

show
hide
Language(s): eng - English
 Dates: 2010-03-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: European Journal of Human Genetics : EJHG
  Alternative Title : Eur. J. Hum. Genet.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 18 (3) Sequence Number: - Start / End Page: 291 - 295 Identifier: ISSN: 1018-4813