[Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy].

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Article

[Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy].

Boletin medico del Hospital Infantil de Mexico - 1 Sept 1990

Barros-Núñez P, Vaca G, Sánchez-Corona J, Zúñiga G, Medina C, Rivas F, Rodríguez R M, Moller M, García-Cruz D

Abstract excerpt

A family with three brothers presenting 12p trisomy due to an adjacent-1 segregation of a paternal translocation (1;12) (q44;p12.2) is described. The patient's phenotype was compatible with the chromosomal imbalance including the gene dosage effect of the glyceraldehyde-3-phosphate dehydrogenase....

Topics

Abnormalities, Multiple
Child, Preschool
Chromosomes, Human, Pair 12
Dosage Compensation, Genetic
Glyceraldehyde-3-Phosphate Dehydrogenases
Humans
Infant
Karyotyping
Male
Pedigree
Phenotype
Trisomy

Source

Open in PubMed

Identifiers

PMID: 2271129

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2271129-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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