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Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

7 Dec 2004

Abstract excerpt

Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene. In few cases, the syndrome is due to a microdeletion at 9q22. Using high-resolution chromosome analysis we have identified a patient...

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PMID: 15690381
DOI: 10.1002/ajmg.a.30422

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