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  A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2

Klopocki, E., Fiebig, B., Robinson, P. N., Tönnies, H., Erdogan, F., Ropers, H.-H., et al. (2006). A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. American Journal of Medical Genetics Part A, 140A(8), 873-877. doi:10.1002/ajmg.a.31163.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-845B-3 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-845C-1
Genre: Journal Article
Alternative Title : Am J Med Genet A

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 Creators:
Klopocki, Eva1, Author           
Fiebig, Britta, Author
Robinson, Peter N.1, Author           
Tönnies, Holger, Author
Erdogan, Fikret2, Author           
Ropers, Hans-Hilger2, Author           
Mundlos, Stefan1, Author           
Ullmann, Reinhard3, Author           
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
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              

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Free keywords: 8p; interstitial deletion; array-CGH
 Abstract: We report on a girl with delayed mental and motor development, ophthalmological abnormalities, and peripheral neuropathy. Chromosome analysis suggested a deletion within chromosome 8p. Further investigation by array-based comparative genomic hybridization (array-CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. The breakpoints are located at chromosome bands 8p12 and 8p21.2. Forty-two known genes including gonadotropin-releasing hormone 1 (GNRH1), transcription factor EBF2, exostosin-like 3 (EXTL3), glutathione reductase (GSR), and neuregulin 1 (NRG1), are located within the deleted region on chromosome 8p. A comparison of our patient with the cases described in the literature is presented, and we discuss the genotype-phenotype correlation in our patient. This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p.

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Language(s): eng - English
 Dates: 2006-04
 Publication Status: Issued
 Pages: -
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 Rev. Type: -
 Identifiers: eDoc: 313088
DOI: 10.1002/ajmg.a.31163
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Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
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Pages: - Volume / Issue: 140A (8) Sequence Number: - Start / End Page: 873 - 877 Identifier: ISSN: 1552-4825