Fragile site long arm chromosome 16

Hum Genet. 1979 Apr 17;48(1):131-4. doi: 10.1007/BF00273287.


A fragile site at the long arms (q21) of chromosome 16 was found in two persons, each of whom became the parent of a child with a de novo structural chromosome abnormality--a balanced autosomal translocation and an autosomal deletion. The question of an increased risk of structural chromosome abnormalities in the offspring of persons with fragile site long arm 16 is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion
  • Chromosome Disorders
  • Chromosomes, Human, 16-18
  • Female
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Translocation, Genetic