title: [A nevoid basal cell carcinoma syndrome with chromosomal aberration].
abstract: We reported a boy with nevoid basal cell carcinoma syndrome (NBCCS) with chromosomal aberration. He showed multiple jaw cysts, basal cell carcinomas, hypertelorism, macrocephaly and mental retardation. Cranial CT revealed calcification of the falx cerebri and tentorium cerebelli, and dilatation of the lateral ventricles. MRI showed a thin corpus callosum. A chromosomal study revealed a deletion of 9q21.31-q22.31. He had generalized tonic-clonic seizures, which were well controlled. Since the gene for NBCCS was recently mapped to chromosome 9q22.3, we suspected that the deletion site in this patient was responsible for his symptoms of NBCCS.
authors.affiliation: Department of Pediatrics, Sapporo Ayumi-no-Sono.
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: T
authors.initials: T
authors.lastname: Yoshimoto
authors.forename: T
authors.initials: T
authors.lastname: Nakao
authors.forename: K
authors.initials: K
authors.lastname: Minagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Y
authors.initials: Y
authors.lastname: Watanabe
authors.forename: C
authors.initials: C
authors.lastname: Tanabe
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D008297:Male