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

American Journal of Medical Genetics. Part a
Eva KlopockiReinhard Ullmann

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.

References

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Apr 6, 2005·BMC Bioinformatics·Wei ChenReinhard Ullmann

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Citations

May 13, 2010·European Journal of Human Genetics : EJHG·Shihui YuWilliam D Graf
Dec 1, 2008·Expert Opinion on Medical Diagnostics·Markus Stumm, Holger Tönnies
Nov 9, 2011·American Journal of Medical Genetics. Part a·Kosuke IzumiAditi S Parikh
Jan 12, 2011·Neurobiology of Disease·Caterina GiacominiAnna Corradi

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