Gilgenkrantz S, Briquel M E, André E, Alexandre P, Jalbert P, Le Marec B, Pouzol P, Pommereuil M
Ann Genet. 1986;29(1):32-5.
From 7 cases of abnormalities involving chromosome 13, the structural gene(s) coding for coagulation factors VII and X were located in the region 13q34-13qter. Gene-dosage effects for these coagulation factors seem to act in both directions, causing a decrease when there is monosomy of segment 13q34, but also, as has not been demonstrated before, an increase when there is trisomy of this same segment.
在7例涉及13号染色体异常的病例中,编码凝血因子VII和X的结构基因位于13q34 - 13qter区域。这些凝血因子的基因剂量效应似乎呈双向作用,当13q34片段单体性时导致其减少,但同样,如之前未被证实的,当该相同片段三体性时导致其增加。