title: Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.
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.
authors.affiliation: Alfigen/The Genetics Institute, Pasadena, CA 91105, USA.
authors.forename: M J
authors.initials: MJ
authors.lastname: Hajianpour
authors.forename: A K
authors.initials: AK
authors.lastname: Hajianpour
authors.forename: R
authors.initials: R
authors.lastname: Habibian
authors.forename: C
authors.initials: C
authors.lastname: Wohlmuth
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002881:Chromosomes, Human, Pair 12; D018900:Dinucleotide Repeats; D005145:Face / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006130:Growth Disorders / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability; D007889:Leiomyoma / Q000150:complications / Q000235:genetics*; D009030:Mosaicism; D012303:Ring Chromosomes; D014594:Uterine Neoplasms / Q000150:complications / Q000235:genetics*
chemical_list: D005819:Genetic Markers