Zlotogora J, Nubani N
Department of Human Genetics, Hadassah Medical Centre, Hebrew University, Jerusalem, Israel.
J Med Genet. 1989 Feb;26(2):138-40. doi: 10.1136/jmg.26.2.138.
A family is described in which four subjects in two sibships had typical split hand/foot malformation. The possibility of the existence of a rare autosomal recessive form of the malformation is discussed, as well as a two locus model. In the two locus model the dominant mutation leading to the split hand/foot malformation is controlled by a gene at another locus. A dominant mutation at the controlling locus leads to non-penetrance of the split hand/foot mutation.
本文描述了一个家族，其中两个同胞关系中的四名受试者患有典型的裂手/裂足畸形。文中讨论了存在一种罕见的常染色体隐性形式畸形的可能性，以及双基因座模型。在双基因座模型中，导致裂手/裂足畸形的显性突变由另一个基因座上的基因控制。控制基因座上的显性突变导致裂手/裂足突变不发生外显。
