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Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13

✍ Scribed by Chang Kim, Kyoung; Wakui, Keiko; Yamagishi, Akira; Ohno, Tsutomu; Sato, Masato; Imaizumi, Satohiko; Aihara, Toshinori; Fukushima, Yoshimitsu; Ohashi, Hirofumi

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 219 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970110)68:1<70::aid-ajmg13>3.0.co;2-l

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✦ Synopsis

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. Am.

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