Evidence for the assignment of GUK 1 gene locus to 1q32→q43 segment from gene dosage effect

B. Dallapiccola, M. S. Lungarotti, A. Falorni, M. Magnani, M. Dacha

Research output: Contribution to journalArticlepeer-review

Abstract

A male infant with dup (1) (932→943) constitution is reported. He had mental and physical retardation and a constellation of dysmorphisms, which are considered characteristic of trisomics for the distal one-third of the long arm of chromosome 1. The assay for guanylate kinase 1 (GUK 1) activity showed a gene dosage effect and confirmed the regional assignment of this marker in the chromosomal region indicated by data derived from somatic hybrids.

Original languageEnglish
Pages (from-to)83-85
Number of pages3
JournalAnnales de Genetique
Volume23
Issue number2
Publication statusPublished - 1980

ASJC Scopus subject areas

  • Genetics

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