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  • Title: Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.
    Author: Hajianpour MJ, Hajianpour AK, Habibian R, Wohlmuth C.
    Journal: Am J Med Genet; 1996 May 17; 63(2):335-9. PubMed ID: 8725781.
    Abstract:
    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.
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