Bamshad M, O'Quinn J R, Carey J C
Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA.
Am J Med Genet. 1998 Feb 3;75(4):351-4. doi: 10.1002/(sici)1096-8628(19980203)75:4<351::aid-ajmg3>3.0.co;2-t.
Ectrodactyly has not previously been reported in children with Wolf-Hirschhorn syndrome (WHS). Based on this premise and the identification of an unbalanced translocation between chromosomes 4p15 and 10q25 in a fetus with ectrodactyly and hemimelia, a second locus for dominantly inherited split hand/foot malformation (SHFM3) was mapped to chromosome 10q24-q25. We present the clinical findings of an infant with WHS and SHFM and suggest that the presence of additional loci on 4p which modify/cause SHFM cannot be excluded.
以前从未在Wolf-Hirschhorn综合征（WHS）患儿中报道过缺指（趾）畸形。基于这一前提，并在一名患有缺指（趾）畸形和半侧肢体发育不全的胎儿中发现了4号染色体短臂15区与10号染色体长臂25区之间的不平衡易位，一个显性遗传型裂手/裂足畸形（SHFM3）的第二个基因座被定位到10号染色体长臂24区至25区。我们报告了一名患有WHS和SHFM的婴儿的临床发现，并提示不能排除4号染色体短臂上存在其他修饰/导致SHFM的基因座。
