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[Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy]. 1990
P Barros-Núñez, and
G Vaca, and
J Sánchez-Corona, and
G Zúñiga, and
C Medina, and
F Rivas, and
R M Rodríguez, and
M Moller, and
D García-Cruz
División de Genética, Unidad de Investigación Biomédica, Guadalajara, Jalisco.
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.
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