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

Journal Article · Fri May 17 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960517)63:2<335::AID-AJMG2>3.0.CO;2-S· OSTI ID:539186

Hajianpour, M J; Habibian, R; Hajianpour, A K ^[1]

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1. Children`s Hospital, Los Angeles, CA (United States); and others

We report on a 30-year-old woman 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 {open_quotes}ring syndrome{close_quotes} 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 cafe-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. 12 refs., 5 figs., 2 tabs.

• OSTI ID: 539186
• Journal Information: American Journal of Medical Genetics, Vol. 63, Issue 2; Other Information: PBD: 17 May 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
HEREDITARY DISEASES
UROGENITAL SYSTEM DISEASES
MENTAL DISORDERS
CONGENITAL MALFORMATIONS
PHENOTYPE
RING CHROMOSOMES
DETECTION
GENETIC MAPPING
HUMAN CHROMOSOME 12
CHROMOSOMAL ABERRATIONS
MOSAICISM
UTERUS
BANDING TECHNIQUES
BIOLOGICAL MARKERS
POLYMERASE CHAIN REACTION
ELECTROPHORESIS