Kueppers F, Dewald G, Gordon H, Pineda A
Hum Hered. 1977;27(4):242-6. doi: 10.1159/000152874.
HLA antigens were determined in two infants with multiple congenital anomalies and in their healthy parents and one sibling. One infant had a deletion of a major portion of the long arm of chromosome 6. The other child had a translocation of a similar piece of chromosome 6 to the short arm of chromosome 3. The mother and the maternal grandmother showed this translocation in a balanced state. The HLA types of both children and their parents exclude the localization of the major histocompatibility locus from the deleted or translocated portion of the long arm of chromosome 6.
对两名患有多种先天性异常的婴儿及其健康父母和一名兄弟姐妹进行了HLA抗原检测。一名婴儿6号染色体长臂的大部分发生了缺失。另一名儿童则是6号染色体的类似片段易位到了3号染色体的短臂上。母亲和外祖母的这种易位处于平衡状态。两名儿童及其父母的HLA类型排除了主要组织相容性位点定位于6号染色体长臂的缺失或易位部分。