Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review

Am J Med Genet. 1996 May 17;63(2):335-9. doi: 10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S.


We report on a 30-year-old women with de novo ring chromosome 12 mosaicism, 46,XX, r(12)(p13.3q24.3)/46,XX. In addition to the clinical manifestations generally observed in "ring syndrome" cases such as growth retardation, short stature, microcephaly, and mental deficiency, she had a broad nasal bridge, micrognathia with overbite, underdeveloped breasts, mild dorsal scoliosis, clinodactyly of the fifth fingers with a single interdigital crease, symphalangism of thumbs, tapering fingers, mild cutaneous syndactyly between the second and third toes, multiple café-au-lait spots, sebaceous acne on the face and back, and mild dystrophic toenails. She developed a large, pedunculated uterine leiomyoma at age 28 years. To our knowledge, uterine leiomyoma in association with r(12) has not been reported previously. However, a gain of chromosome 12 and translocations involving 12q14-15 have been described.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Adult
  • Chromosomes, Human, Pair 12*
  • Dinucleotide Repeats
  • Face / abnormalities
  • Female
  • Genetic Markers
  • Growth Disorders / physiopathology
  • Humans
  • Intellectual Disability
  • Leiomyoma / complications
  • Leiomyoma / genetics*
  • Mosaicism
  • Ring Chromosomes*
  • Uterine Neoplasms / complications
  • Uterine Neoplasms / genetics*


  • Genetic Markers