Deficiency of distal 8p--report of two cases and review of the literature

Clin Genet. 1990 Apr;37(4):271-8. doi: 10.1111/j.1399-0004.1990.tb04189.x.


A terminal deletion in the short arm of chromosome 8 was found in a 2.5-year-old boy: 46,XY,del(8) (p22.0) and in a 1-year-old girl: 46,XX,del(8) (p23.1) with dysmorphic craniofacial features and developmental retardation. Erythrocyte GSR activities of the boy and of his parents were within normal limits. Vitamin K dependent coagulation factors in the girl and her parents gave normal results. Clinical findings were compared with previously reported cases and suggested a recognizable syndrome.

Publication types

  • Case Reports
  • Comparative Study
  • Review

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 8*
  • Facial Expression
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Monosomy*
  • Vitamin K / metabolism


  • Vitamin K