Linkage of preaxial polydactyly type 2 to 7q36.
We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscopic telomeric chromosomal deletion in phase with the PPD-2 phenotype. Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly) have also been linked to the subtelomeric region of chromosome 7q [Heutink et al., 1994: Nat Genet 6:287-291; Tsukurov et al., 1994: Nat Genet 6:282-286]. We demonstrate by haplotype analysis that our North American pedigree represents a PPD allele that is independent of the founder PPD allele present in the previously described kindreds.
Hing
A V
AV
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Helms
C
C
Slaugh
R
R
Burgess
A
A
Wang
J C
JC
Herman
T
T
Dowton
S B
SB
Donis-Keller
H
H
D001483:Base Sequence; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D008040:Genetic Linkage; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics*; D011110:Polymorphism, Genetic; D013933:Thumb / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities