Wolf-Hirschhorn syndrome and a split-hand malformation

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.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 4 / genetics
  • Ectromelia / genetics*
  • Female
  • Genetic Linkage
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Translocation, Genetic / genetics