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  Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay.

Erdogan, F., Ullmann, R., Chen, W., Schubert, M., Adolph, S., Hultschig, C., et al. (2007). Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A, 143(2), 172-178. doi:10.1002/ajmg.a.31541.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8248-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8249-8
Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

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fulltext_ID=113515322&PLACEBO=IE.pdf (Any fulltext), 202KB
 
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 Creators:
Erdogan, Fikret1, Author              
Ullmann, Reinhard2, Author              
Chen, Wei1, Author              
Schubert, Marei3, Author
Adolph, Sabine, Author
Hultschig, Claus3, Author
Kalscheuer, Vera M.4, Author              
Ropers, Hans-Hilger1, Author              
Spaich, Christiane, Author
Tzschach, Andreas1, 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              
3Max Planck Society, ou_persistent13              
4Chromosome 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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Free keywords: array CGH • del(15)(q14) • cleft palate • atrial septal defect • mental retardation
 Abstract: High-resolution array CGH utilizing sets of overlapping BAC and PAC clones (tiling path) covering the whole genome is a powerful novel tool for fast detection of submicroscopic chromosome deletions or duplications. We describe the successful application of a submegabase resolution whole genome tiling path BAC array to confirm and characterize a de novo interstitial deletion of chromosome 15. The deletion has a size of 5.3 Mb and is located within chromosome band 15q14, distal to the Prader-Willi/Angelman region. The affected girl had a heart defect, cleft palate, recurrent infections, and developmental delay. In contrast to GTG banding, array CGH determined the exact number of deleted genes and thus allowed the identification of candidate genes for cleft palate (GREM1, CX36, MEIS2), congenital heart defect (ACTC, GREM1, CX36, MEIS2), and mental retardation (ARHGAP11A, CHRNA7, CHRM5).

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Language(s): eng - English
 Dates: 2007-02-01
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 334106
DOI: 10.1002/ajmg.a.31541
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am. J. Med. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 143 (2) Sequence Number: - Start / End Page: 172 - 178 Identifier: ISSN: 1552-4825