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 journalArticle

33 Citations (Scopus)

Abstract

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
Volume37
Issue number4
Publication statusPublished - 1990

Fingerprint

Parents
Chromosomes, Human, Pair 8
Blood Coagulation Factors
Vitamin K
Erythrocytes

Keywords

  • 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

Cite this

Pecile, V., Petroni, M. G., Fertz, M. C., & Filippi, G. (1990). Deficiency of distal 8p-: Report of two cases and review of the literature. Clinical Genetics, 37(4), 271-278.

Deficiency of distal 8p- : Report of two cases and review of the literature. / Pecile, V.; Petroni, M. G.; Fertz, M. C.; Filippi, G.

In: Clinical Genetics, Vol. 37, No. 4, 1990, p. 271-278.

Research output: Contribution to journalArticle

Pecile, V, Petroni, MG, Fertz, MC & Filippi, G 1990, 'Deficiency of distal 8p-: Report of two cases and review of the literature', Clinical Genetics, vol. 37, no. 4, pp. 271-278.
Pecile, V. ; Petroni, M. G. ; Fertz, M. C. ; Filippi, G. / Deficiency of distal 8p- : Report of two cases and review of the literature. In: Clinical Genetics. 1990 ; Vol. 37, No. 4. pp. 271-278.
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