Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome

Am J Med Genet. 1995 Feb 13;55(4):462-5. doi: 10.1002/ajmg.1320550414.


A chromosomal translocation between chromosomes 4 and 8 resulting in Wolf-Hirschhorn syndrome in 2 individuals has been traced through 4 generations of a family. Ascertainment of the family was through a newborn infant with evident Wolf-Hirschhorn syndrome who had an unbalanced chromosomal translocation [46,XY,-4,+der(4),t(4;8) (p15.32;p22)]. Discussion with the family documented a paternal great-uncle who also had a similar phenotype and profound mental retardation. Subsequently this individual was found to have the same unbalanced chromosome constitution as the propositus. The 39-year-old great-uncle is the oldest reported individual with the Wolf-Hirschhorn syndrome. The importance of chromosome evaluation of older individuals with mental retardation syndromes is emphasized.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 8*
  • Face / abnormalities
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Pedigree
  • Phenotype
  • Syndrome
  • Translocation, Genetic*