De novo interstitial deletion 16(q12.1q13) of paternal origin in a 10-year-old boy

Clin Genet. 1992 Nov;42(5):246-50. doi: 10.1111/j.1399-0004.1992.tb03249.x.


A 10-year-old boy with a de novo del(16)(q12.1q13) and many features of the deletion 16q phenotype is described. The deletion occurred in a paternal chromosome as demonstrated by DNA studies with polymorphic (AC)n microsatellite repeat markers. Comparison with published cases suggests that deletion of either of two regions (q13 and q22.1) on the long arm of chromosome 16 is associated with an apparently identical phenotype. No parental imprinting of this region was demonstrated.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Bone Diseases, Developmental / genetics
  • Child
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16*
  • Deafness / genetics
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Pierre Robin Syndrome / genetics*
  • Polymerase Chain Reaction
  • Syndrome