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

Abstract

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 “ring syndrome” cases such as growth retardation, short stature, microcephaly, and mental deficiency, she had a broad nasal bridge, micrognathia with overbite, under‐developed 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. © 1996 Wiley‐Liss, Inc.

Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature

“…There appears to be a slight female preponderance with female:male ratio of 4:3. Mental retardation was universally present and microcephaly as in our case was noted in two other cases [Zuffardi et al, 1980; Hajianpour et al, 1996]. Facial features observed were epicanthal folds, prominent nose, flat nasal bridge, low set ears, cupped ears, high arched palate, micrognathia, short webbed neck, and low hairline [Hamerton et al, 1973; Scribanu et al, 1980; Zuffardi et al, 1980; Hajianpour et al, 1996].…”

“…Mental retardation was universally present and microcephaly as in our case was noted in two other cases [Zuffardi et al, 1980; Hajianpour et al, 1996]. Facial features observed were epicanthal folds, prominent nose, flat nasal bridge, low set ears, cupped ears, high arched palate, micrognathia, short webbed neck, and low hairline [Hamerton et al, 1973; Scribanu et al, 1980; Zuffardi et al, 1980; Hajianpour et al, 1996]. Skeletal abnormalities such as pectus excavatum and clinodactyly have been described in isolated reports [Scribanu et al, 1980; Park et al, 1988; Hajianpour et al, 1996].…”

“…These abnormalities vary from numerical defects such as haploidy and polyploidy to a spectrum of structural defects like ring chromosomes. Cases with ring chromosomes 12 have been identified previously in association with mental retardation but reported cases are few [Hamerton et al, 1973; Scribanu et al, 1980; Zuffardi et al, 1980; Park et al, 1988; Hajianpour et al, 1996]. We report an additional patient with ring chromosome 12, with unique phenotypic features and association with congenital heart malformation, which have not been reported previously in the literature.…”

“…Facial features observed were epicanthal folds, prominent nose, flat nasal bridge, low set ears, cupped ears, high arched palate, micrognathia, short webbed neck, and low hairline [Hamerton et al, 1973; Scribanu et al, 1980; Zuffardi et al, 1980; Hajianpour et al, 1996]. Skeletal abnormalities such as pectus excavatum and clinodactyly have been described in isolated reports [Scribanu et al, 1980; Park et al, 1988; Hajianpour et al, 1996]. Other associated abnormalities were cryptorchidism, glandular hypospadias, uterine leiomyoma, café‐au‐lait spots, cutaneous haemangiomas, hypothyroidism with elevated antithyroid antibodies [Hamerton et al, 1973; Scribanu et al, 1980; Zuffardi et al, 1980; Park et al, 1988; Hajianpour et al, 1996].…”

“…Skeletal abnormalities such as pectus excavatum and clinodactyly have been described in isolated reports [Scribanu et al, 1980; Park et al, 1988; Hajianpour et al, 1996]. Other associated abnormalities were cryptorchidism, glandular hypospadias, uterine leiomyoma, café‐au‐lait spots, cutaneous haemangiomas, hypothyroidism with elevated antithyroid antibodies [Hamerton et al, 1973; Scribanu et al, 1980; Zuffardi et al, 1980; Park et al, 1988; Hajianpour et al, 1996]. Features unique to our patient were mild hirsutism, pseudocamptodactyly of the fifth finger, and ASD and exaggerated lumbar lordosis.…”