Cantu J M, Hernandez A, Nazara Z, Rolon A, Ramirez M L, Sanchez-Corona J, Rivera H
Ann Genet. 1981;24(1):41-4.
A family with a reciprocal translocation (4;10)(p16;q24) leading to a simultaneous 10q24 leads to qter trisomy and partial 4p16 monosomy in two females (niece and aunt) is described. Comparative analysis with previously reported cases corroborates a distinctive dysmorphic syndrome due to the 10q24 leads to qter trisomy whose phenotypical expression is dominant over that of the 4p16 monosomy and those produced by other partial monosomies. This phenomenon is interpreted as epistasis at the chromosome level.
本文描述了一个患有相互易位(4;10)(p16;q24)的家族,该易位导致两个女性(侄女和姑姑)同时出现10q24至qter三体和部分4p16单体。与先前报道病例的比较分析证实,由于10q24至qter三体导致了一种独特的畸形综合征,其表型表达比4p16单体以及其他部分单体产生的表型更为显著。这种现象被解释为染色体水平的上位效应。