继发于裂隙染色体9q缺失的痣样基底细胞癌综合征
NBCCS secondary to an interstitial chromosome 9q deletion作者机构：Department of Dermatology Royal Victoria In-firmary Queen Victoria Road Newcastle-upon-Tyne NE1 4LP United Kingdom
出 版 物：《世界核心医学期刊文摘（皮肤病学分册）》 (Digest of the World Core Medical JOurnals:Dermatology)
年 卷 期：2005年第1卷第2期
页 面：35-35页
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
主 题：身材矮小 interstitial 基因片段 表现型 表形
摘 要：Naevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome is a rare autosomal dominant cancer disorder. The Gorlin’s gene, Patched 1 (PTCH1), maps to Chromosome 9q. Germline mutations of PTCH1 occur in patients with NBCCS. The subsequent loss of the remaining allele results in cancer formation. We present a patient with NBCCS and additional phenotypic features including severe developmental delay, short stature and hypotelorism who was found to have an interstitial chromosome 9q deletion. The NBCCS phenotype in our patient occurred as a result of PTCH1 deletion in contrast with an inherited mutation of this gene.
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