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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)125-130
Number of pages6
JournalHuman Genetics
Volume38
Issue number2
DOIs
Publication statusPublished - Jan 1977

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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