Deletion of 16q with prolonged survival and unusual radiographic manifestations

Am J Med Genet. 1990 Dec;37(4):504-9. doi: 10.1002/ajmg.1320370414.


Deletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Fragility
  • Chromosomes, Human, Pair 16*
  • Facial Bones / abnormalities
  • Foot Deformities, Congenital / diagnostic imaging*
  • Foot Deformities, Congenital / genetics
  • Humans
  • Intellectual Disability / genetics
  • Lumbar Vertebrae / diagnostic imaging
  • Male
  • Radiography
  • Spinal Diseases / diagnostic imaging*
  • Spinal Diseases / genetics
  • Thoracic Vertebrae / diagnostic imaging