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

V. Pecile, M. G. Petroni, M. C. Fertz, G. Filippi

Research output: Contribution to journalArticlepeer-review


A terminal deletion in the short arm of chromosome 8 was found in a 2.5-year-old boy: 45,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.

Original languageEnglish
Pages (from-to)271-278
Number of pages8
JournalClinical Genetics
Issue number4
Publication statusPublished - 1990


  • chromosome 8
  • chromosome deletion
  • congenital heart defect
  • del(8)(p.22), del(8) (p.23)
  • deletion of distal 8p
  • glutathione reductase
  • vitamin K dependent coagulation factors

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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