Human Genetics

, Volume 38, Issue 2, pp 125–130

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)

  • B. Dallapiccola
  • L. Santoro
  • Simonetta Trabace
  • M. Ramenghi
  • P. Mastroiacovo
  • E. Gandini
Original Investigations

DOI: 10.1007/BF00527393

Cite this article as:
Dallapiccola, B., Santoro, L., Trabace, S. et al. Hum Genet (1977) 38: 125. doi:10.1007/BF00527393

Summary

Report is given of a mentally retarded and dysmorphic patient with a partial monosomy 8q, resulting from a de novo translocation t(4;8)(q13; q213).

Determination of erythrocyte gluthathione reductase (E-GSR) activity in the proposita shows activity in the normal range. Previous evidence for of the assignment of E-GSR locus to the short arm of chromosome 8 is confirmed.

Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • B. Dallapiccola
    • 1
  • L. Santoro
    • 1
  • Simonetta Trabace
    • 1
  • M. Ramenghi
    • 2
  • P. Mastroiacovo
    • 3
  • E. Gandini
    • 1
  1. 1.Cattedra di Genetica MedicaUniversità di RomaItaly
  2. 2.Divisione di PediatriaOspedale CivileAscoli PicenoItaly
  3. 3.Clinica PediatriaUnviersità CattolicaRomaItaly