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 journalArticle

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

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Chromosomes, Human, Pair 8
Chromosome Deletion
Glutathione Reductase
Mentally Disabled Persons
Reference Values
Erythrocytes
Monosomy 8q Chromosome 8

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213). / Dallapiccola, B.; Santoro, L.; Trabace, Simonetta; Ramenghi, M.; Mastroiacovo, P.; Gandini, E.

In: Human Genetics, Vol. 38, No. 2, 01.1977, p. 125-130.

Research output: Contribution to journalArticle

Dallapiccola, B, Santoro, L, Trabace, S, Ramenghi, M, Mastroiacovo, P & Gandini, E 1977, 'Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)', Human Genetics, vol. 38, no. 2, pp. 125-130. https://doi.org/10.1007/BF00527393
Dallapiccola, B. ; Santoro, L. ; Trabace, Simonetta ; Ramenghi, M. ; Mastroiacovo, P. ; Gandini, E. / Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213). In: Human Genetics. 1977 ; Vol. 38, No. 2. pp. 125-130.
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