Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter

Am J Med Genet. 1992 Nov 15;44(5):696-8. doi: 10.1002/ajmg.1320440532.


We have investigated a patient with the Robin sequence and a unilateral deficiency of the left forearm. She was found to have a terminal deletion of the long arm of chromosome 4, del(4)(q33). The clinical manifestations of this patient differ from those of 7 previously described patients with a deletion of the same segment.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Arm / diagnostic imaging
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Female
  • Humans
  • Infant, Newborn
  • Pierre Robin Syndrome / diagnosis
  • Pierre Robin Syndrome / genetics*
  • Radiography
  • Ulna / abnormalities*