Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2

B. Dallapiccola, V. Brinchi, M. Magnani, M. Dacha

Research output: Contribution to journalArticle

Abstract

A 22p+ chromosome in the lymphocytes of an infant with mental deficiency and congenital malformations was found to be a de novo translocation that could not be characterized by banding methods. The demonstration of a dosage effect for four enzymes - TPI, GAPHD, LDHB, and ENO2 - in the infant's erythrocytes was consistent with trisomy 12p. The observation demonstrates the usefulness of information provided by the human gene map in the characterization of small chromosome imbalances which defy accurate identification by available banding techniques.

Original languageEnglish
Pages (from-to)111-113
Number of pages3
JournalAnnales de Genetique
Volume23
Issue number2
Publication statusPublished - 1980

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Chromosomes
Intellectual Disability
Erythrocytes
Observation
Lymphocytes
Enzymes
Genes
lactate dehydrogenase 1
12p trisomy Chromosome 12

ASJC Scopus subject areas

  • Genetics

Cite this

Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2. / Dallapiccola, B.; Brinchi, V.; Magnani, M.; Dacha, M.

In: Annales de Genetique, Vol. 23, No. 2, 1980, p. 111-113.

Research output: Contribution to journalArticle

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