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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. Klopocki, E., Fiebig, B., Robinson, P., Tönnies, H., Erdogan, F., Ropers, H.H., Mundlos, S., Ullmann, R. Am. J. Med. Genet. A (2006) [Pubmed]
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