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