title: [Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy].
abstract: 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. The importance of the genetic counseling in these families is stressed.
authors: División de Genética, Unidad de Investigación Biomédica, Guadalajara, Jalisco.
authors: P
authors: P
authors: Barros-Núñez
authors: G
authors: G
authors: Vaca
authors: J
authors: J
authors: Sánchez-Corona
authors: G
authors: G
authors: Zúñiga
authors: C
authors: C
authors: Medina
authors: F
authors: F
authors: Rivas
authors: R M
authors: RM
authors: Rodríguez
authors: M
authors: M
authors: Moller
authors: D
authors: D
authors: García-Cruz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D004303:Dosage Compensation, Genetic; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy
chemical_list: D005987:Glyceraldehyde-3-Phosphate Dehydrogenases
vernacular_title: Efecto de dosis génica para la enzima gliceraldehído-3-fosfato deshidrogenasa (GAPD) en trisomía parcial 12p13.3 pter.