Muscular dystrophy associated with extra-abdominal desmoid tumor showing aberrant chromosome 1 [46,XX,add(1)(p36)]

Am J Med Genet. 1998 Feb 26;76(1):42-4. doi: 10.1002/(sici)1096-8628(19980226)76:1<42::aid-ajmg7>3.0.co;2-r.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 1 / genetics*
  • Female
  • Fibromatosis, Aggressive / complications*
  • Fibromatosis, Aggressive / genetics*
  • Humans
  • Karyotyping
  • Mandibular Neoplasms / complications*
  • Mandibular Neoplasms / genetics*
  • Muscular Dystrophies / complications*
  • Muscular Dystrophies / genetics*