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

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

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	83-85
Number of pages	3
Journal	Annales de Genetique
Volume	23
Issue number	2
Publication status	Published - 1980

ASJC Scopus subject areas

Genetics

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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.",

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year = "1980",

language = "English",

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AU - Dallapiccola, B.

AU - Lungarotti, M. S.

AU - Falorni, A.

AU - Magnani, M.

AU - Dacha, M.

PY - 1980

Y1 - 1980

N2 - 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.

AB - 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.

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

Abstract

ASJC Scopus subject areas

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