Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder charact
erized by posterior limb deficiencies or duplications, apocrine/mammar
y gland hypoplasia and/or dysfunction, abnormal dentition, delayed pub
erty and genital anomalies, We report the mapping of a gene causing UM
S to chromosome 12q23-24.1. Linkage analysis generated a positive led
score of 6.21 at theta = 0.00 with the marker D12S79, and recombinants
bracket the UMS gene to a 21 cM region. This region contains a locus
for Holt-Oram syndrome (HOS) suggesting that the genes for UMS and HOS
may be allelic or closely linked. The identification of the gene caus
ing UMS will be an important step toward understanding the molecular m
echanisms that control limb and apocrine gland development.