Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13.
We report on a male infant with tetramelic mirror-image polydactyly and a de novo, balanced reciprocal translocation between 2p23.3 and 14q13. This patient suggests that a novel gene, which functions in the morphogenesis of the hands and feet along the anterior-posterior axis, may be located at 2p23.3 or 14q13.
Kim
K C
KC
Division of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, Japan.
Wakui
K
K
Yamagishi
A
A
Ohno
T
T
Sato
M
M
Imaizumi
S
S
Aihara
T
T
Fukushima
Y
Y
Ohashi
H
H
D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017689:Polydactyly / Q000235:genetics*; D014034:Toes / Q000002:abnormalities*; D014178:Translocation, Genetic