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

✍ Scribed by Hajianpour, M. J.; Hajianpour, Atieh K.; Habibian, Rezvan; Wohlmuth, Cinna

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 27 KB
• Volume: 63
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960517)63:2<335::aid-ajmg2>3.0.co;2-s

✦ Synopsis

W e report on a 30-year-old woman with de novo ring chromosome 12 mosaicism, 46-, r(l2)(pl3.3q24.3)/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 caf6-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.