[Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy].
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.
Barros-Núñez
P
P
División de Genética, Unidad de Investigación Biomédica, Guadalajara, Jalisco.
Vaca
G
G
Sánchez-Corona
J
J
Zúñiga
G
G
Medina
C
C
Rivas
F
F
Rodríguez
R M
RM
Moller
M
M
García-Cruz
D
D
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
D005987:Glyceraldehyde-3-Phosphate Dehydrogenases
Efecto de dosis génica para la enzima gliceraldehído-3-fosfato deshidrogenasa (GAPD) en trisomía parcial 12p13.3 pter.