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

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Am J Med Genet A. 2006 Mar 9

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

Klopocki E, Fiebig B, P, Tonnies H, Erdogan F, Ropers HH,

Mundlos S, Ullmann R.

Institute of Medical Genetics, Charite Universitatsmedizin Berlin,

Berlin, Germany.

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. .