[基因剂量对部分12p13.3 pter三体中甘油醛-3-磷酸脱氢酶（GAPD）的影响]
[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
本文描述了一个有三个兄弟的家庭，他们因父亲的易位（1；12）（q44；p12.2）发生相邻-1分离而出现12号染色体三体。患者的表型与染色体不平衡相符，包括甘油醛-3-磷酸脱氢酶的基因剂量效应。强调了在这些家庭中进行遗传咨询的重要性。
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