The Wolf-Hirschhorn syndrome. I. Genetics

Clin Genet. 1980 Jun;17(6):375-84. doi: 10.1111/j.1399-0004.1980.tb00167.x.


Four new cases of the Wolf-Hirschhorn syndrome are presented, two of which were due to t(4;22)mat. Review of the literature (more than 100 cases of the Wolf-Hirschhorn syndrome) showed that 13 % of all the reported cases were not mutations but segregations of parental chromosomal aberrations, primarily translocations. Similar data were obtained previously for other deletions (5p--, 18p--, 18q--). Analysis of data on some "new" deletion syndromes (4q--, 8p--, 9p--, 10p--, 11p--, 11q--) revealed that 14.5 % were inherited cases. Thus, all human autosomal deletions have virtually the same genetic pattern.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, 4-5*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Male
  • Syndrome