Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet.
Mirror hands and feet (MIM, 135750) is a rare congenital anomaly, and mirror-image polydactyly is considered to be a variant of mirror hands and feet. To our knowledge, seven patients with the disorder have been reported in the literature. Parent-to-child transmission was reported in two families, which may indicate a single-gene defect inherited in an autosomal dominant fashion. We had previously encountered a boy with mirror-image polydactyly whose karyotype showed 46,XY,t(2;14) (p23.3;q13) de novo. We hypothesized that at least one of the putative genes responsible for the determination of an anterior-posterior limb pattern is disrupted by a translocation breakpoint. In this study, we identified a yeast artificial chromosome clone spanning a translocation breakpoint at 14q13, and the breakpoint was confirmed to be located between two loci, AFM200ZH4 and D14S306, within a genetic distance of 0.6 cM.
Matsumoto
N
N
Department of Human Genetics, Nagasaki University School of Medicine, Japan. f0932@cc.nagasaki-u.ac.jp
Ohashi
H
H
Kato
R
R
Fujimoto
M
M
Tsujita
T
T
Sasaki
T
T
Nakano
M
M
Miyoshi
O
O
Fukushima
Y
Y
Niikawa
N
N
D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002876:Chromosomes, Bacterial; D002883:Chromosomes, Human, Pair 14; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D017689:Polydactyly / Q000235:genetics*; D016324:Sequence Tagged Sites; D014034:Toes / Q000002:abnormalities*; D014178:Translocation, Genetic