Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21) mat

Clin Genet. 1987 Jun;31(6):366-9. doi: 10.1111/j.1399-0004.1987.tb02825.x.

Abstract

Wolf syndrome has been recognized since the mid-sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16. In this report we present familial transmission of 4p16 deletion (associated with 8pter----8p21 duplication) in three individuals with typical expression of Wolf syndrome. The transmission occurs from a de novo balanced maternal translocation, 46,XX,t(4;8)(p16;p21). An effort has also been made to distinguish the terminal deletion syndrome from the emerging interstitial deletion syndrome of 4p.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • Chromosomes, Human, Pair 8
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Pedigree
  • Syndrome
  • Translocation, Genetic