title: Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)].
abstract: We report on a 2-year-old girl with probable limb-girdle muscular dystrophy associated with an extra-abdominal desmoid tumor of the right mandible. This association is previously undescribed. The tumor was totally removed. Cytogenetic analysis of the tumor showed a clonal karyotypic abnormality: 46,XX,add(1)(p36) in 3 of 20 cells analyzed. Since an association of a neoplasm with limb-girdle muscular dystrophy has previously been reported in 3 cases, the two abnormalities are likely related causally. The chromosome abnormality in our patient may play a role in the occurrence of her desmoid tumor.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Katsuura
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.forename: D
authors.initials: D
authors.lastname: Sendo
authors.forename: K
authors.initials: K
authors.lastname: Akiba
authors.forename: A
authors.initials: A
authors.lastname: Honma
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: C
authors.initials: C
authors.lastname: Numakura
authors.forename: S
authors.initials: S
authors.lastname: Yokoyama
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: T
authors.initials: T
authors.lastname: Shibata
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D018222:Desmoid Tumors / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008339:Mandibular Neoplasms / Q000150:complications* / Q000235:genetics*; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics*