On the deletion 4p16 Wolf-Hirschhorn syndrome

Ann Genet. 1979;22(4):228-31.


Two girls (aged 46 and 5 months) and one boy aged 5 months) were studied and found to have the Wolf-Hirschhorn syndrome. Chromosomal complement in all three cases implicated the deletion of the 4p16 band ; in two of them an extra segment of autosomal material was found to be translocated to 4p. Parents' karyotypes were normal. It is concluded that the expression of the 4p16 monosomy is stronger than that of some simultaneous partial trisomies.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, 4-5*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Phenotype
  • Translocation, Genetic