Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Ring chromosomes > ring chromosome 15

ring chromosome 15

Monday 26 March 2007

Synopsis

- growth retardation (100%)

  • intra-uterine growth retardation (IUGR)
  • postnatal growth retardation
    • failure to thrive (#7405920#)

- atrophic intestinal mucosa (#3962666#)
- variable mental retardation (95%)
- microcephaly (88%)
- hypertelorism (46%),
- triangular facies (42%) (#3278612#)
- delayed bone age (75%)
- brachydactyly (44%)
- speech delay (39%)
- frontal bossing (36%)
- anomalous ears (30%)
- cafe-au-lait spots (30%)
- cryptorchidism (30%)
- microcephaly (#6468449#)
- dysmorphism of ears, fingers and feet (#6468449#)
- primary gonadal hypoplasia (#7116681#)
- infertility (#7105474#)
- stillborn

- Malformations

  • congenital diaphragmatic hernia (#17380471#)
  • Fryns syndrome (#2746621#)
  • radial malformations (radial defects) (#7449181#)
  • malrotation of the gut
  • cardiac malformations (30%)
    • ventricular septal defect (VSD)

- intrauterine growth retardation (#17380471#)
- Increased fetal nuchal fold (#11746160#)
- 15q26.1-qter deletion (#17380471#)

See also

- terminal 15q deletions

References

- Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA 3rd. Two patients with ring chromosome 15 syndrome. Am J Med Genet. 1988 Jan;29(1):149-54. PMID: #3278612#