Wolf-Hirschhorn syndrome and a split-hand malformation.
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.
Bamshad
M
M
Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84112, USA. mike@thor.med.utah.edu
O'Quinn
J R
JR
Carey
J C
JC
D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D014178:Translocation, Genetic / Q000235:genetics