Trisomy 16p in a liveborn infant and review of trisomy 16p

Am J Med Genet. 1992 Feb 1;42(3):316-9. doi: 10.1002/ajmg.1320420311.


We report on an infant boy with duplication of part of 16p and partial deficiency of 9p: 46,XY, -9, + der(9)t(9;16)(p24;p13.1)mat. The child has the typical phenotype of dup(16p) even though the extra piece of 16p is small (16p13.1----pter). Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a thin vermilion border of the upper lip, and left renal dysgenesis. We review 16p duplications.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 16 / ultrastructure*
  • Chromosomes, Human, Pair 9 / ultrastructure*
  • Humans
  • Infant
  • Male
  • Trisomy*