English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease

Erdogan, F., Larsen, L. A., Zhang, L., Tümer, Z., Tommerup, N., Chen, W., et al. (2008). High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. Journal of Medical Genetics, 11, 705-709. doi:10.1136/jmg.2008.058776.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F3F-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F40-2
Genre: Journal Article
Alternative Title : 45

Files

show Files
hide Files
:
704.pdf (Any fulltext), 725KB
 
File Permalink:
-
Name:
704.pdf
Description:
-
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: INSTITUT
License:
-

Locators

show

Creators

show
hide
 Creators:
Erdogan, F1, Author
Larsen, L A, Author
Zhang, L, Author
Tümer, Z, Author
Tommerup, N, Author
Chen, Wei2, Author              
Jacobsen, J R, Author
Schubert, M1, Author
Jurkatis, J, Author
Tzschach, Andreas2, Author              
Ropers, Hans Hilger2, Author              
Ullmann, Reinhard3, Author              
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

Content

show
hide
Free keywords: -
 Abstract: BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but very little is known about the impact of DNA copy number changes in non-syndromic CHD. METHOD: A sub-megabase resolution array comparative genome hybridisation (CGH) screen was carried out on 105 patients with CHD as the sole abnormality at the time of diagnosis. RESULTS: There were 18 chromosomal changes detected, which do not coincide with common DNA copy number variants, including one de novo deletion, two de novo duplications and eight familial copy number variations (one deletion and seven duplications). CONCLUSIONS: Our data show that submicroscopic deletions and duplications play an important role in the aetiology of this condition, either as direct causes or as genetic risk factors for CHD. These findings have immediate consequences for genetic counselling and should pave the way for the elucidation of the pathogenetic mechanisms underlying CHD.

Details

show
hide
Language(s): eng - English
 Dates: 2008-08-19
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Journal of Medical Genetics
  Alternative Title : 45
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 11 Sequence Number: - Start / End Page: 705 - 709 Identifier: ISSN: 0022-2593