ring chromosome 15

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#