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Wolf-Hirschhorn syndrome and a split-hand malformation
Authors:Michael Bamshad  Janis R. O'Quinn  John C. Carey
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. Am. J. Med. Genet. 75:351-354, 1998. © 1998 Wiley-Liss, Inc.
Keywords:Wolf-Hirschhorn  ectrodactyly  limb malformation
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