Brachydactyly type C gene maps to human chromsome 12q24.
Brachydactyly type C is an autosomal dominant disorder characterized by abnormal segmentation of the index and middle fingers segregating with a high degree of variable expression in members of the same family. We have followed up and studied members of the large kindred segregating with the brachydactyly type C phenotype described by Virgil Haws in 1963, and using genetic linkage analysis, we localized the susceptibility gene to human chromosome 12q24.
Polymeropoulos
M H
MH
Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA. mph@aeolus.nchgr.nih.gov
Ide
S E
SE
Magyari
T
T
Francomano
C A
CA
D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000235:genetics*; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D014034:Toes / Q000002:abnormalities