[Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy].
作者信息
Barros-Núñez P, Vaca G, Sánchez-Corona J, Zúñiga G, Medina C, Rivas F, Rodríguez R M, Moller M, García-Cruz D
机构信息
División de Genética, Unidad de Investigación Biomédica, Guadalajara, Jalisco.
出版信息
Bol Med Hosp Infant Mex. 1990 Sep;47(9):656-9.
PMID:2271129
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.
摘要
Zotero 插件