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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 313088.0, MPI für molekulare Genetik / Research Group Development and Disease
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
Authors:Klopocki, Eva; Fiebig, Britta; Robinson, Peter N.; Tönnies, Holger; Erdogan, Fikret; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard
Language:English
Date of Publication (YYYY-MM-DD):2006-04
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet A
Volume:140A
Issue / Number:8
Start Page:873
End Page:877
Copyright:© 2006 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Free Keywords:8p; interstitial deletion; array-CGH
Comment of the Author/Creator:e-mail: Eva Klopocki (eva.klopocki@charite.de)
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany;
Institute of Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany
Identifiers:ISSN:1552-4825
DOI:10.1002/ajmg.a.31163
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