Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet |
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| Authors: | N Matsumoto Hirofumi Ohashi Rumiko Kato Masahiro Fujimoto Takahiro Tsujita Tohru Sasaki Motoi Nakano Osamu Miyoshi Yoshimitsu Fukushima Norio Niikawa |
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| Institution: | (1) Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1-12-4, Nagasaki 852, Japan Tel.: +81-958-49-7120; Fax: +81-958-49-7121 e-mail: f0932@cc.nagasaki-u.ac.jp, JP;(2) Division of Medical Genetics, Saitama Children’s Medical Center, Iwatsuki, Japan, JP;(3) Second Department of Surgery, Nagasaki University School of Medicine, Nagasaki, Japan, JP;(4) Department of Psychiatry, Nagasaki University School of Medicine, Nagasaki, Japan, JP;(5) Department of Urology, Nagasaki University School of Medicine, Nagasaki, Japan, JP;(6) Department of Plastic Surgery, Nagasaki University School of Medicine, Nagasaki, Japan, JP;(7) Department of Hygiene, Shinshu University School of Medicine, Matsumoto, Japan, JP |
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| Abstract: | 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.
Received: 25 September 1996 / Revised: 6 December 1996 |
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