Partial monosomy of the long arm of chromosome 16: a distinct clinical entity?

Hum Genet. 1979 Jan 19;46(1):115-20. doi: 10.1007/BF00278910.


A 7-month-old male child with a de novo, seemingly balanced reciprocal 5p/16q translocation and karyotype 46,XY,t(5;16) (p14;q21), resulting from a maternal meiotic error, is described. The clinical findings in this patient are strikingly similar to those in the only patient with partial deletion 16q hitherto described, [del(16)(q21)], indicating that during the 5p/16q rearrangement, 16q material was lost and suggesting that partial or total deletion of the long arm of chromosome 16 distal to band q21 is accompanied by a distinct clinical phenotype.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, 16-18
  • Chromosomes, Human, 4-5
  • Growth Disorders / genetics*
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Translocation, Genetic