Literature DB >> 8986279

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

K C Kim1, K Wakui, A Yamagishi, T Ohno, M Sato, S Imaizumi, T Aihara, Y Fukushima, H Ohashi.   

Abstract

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.

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Year:  1997        PMID: 8986279     DOI: 10.1002/(sici)1096-8628(19970110)68:1<70::aid-ajmg13>3.0.co;2-l

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  5 in total

1.  Mirror foot: treatment of three cases and review of the literature.

Authors:  Hodaka Fukazawa; Hidehiko Kawabata; Yoshito Matsui
Journal:  J Child Orthop       Date:  2009-07-07       Impact factor: 1.548

2.  A case report of bilateral mirror clubfeet and bilateral hand polydactyly.

Authors:  Mai P Nguyen; Ericka A Lawler; Jose A Morcuende
Journal:  Iowa Orthop J       Date:  2014

3.  A rare syndrome of five finger hands and polydactyly of the feet: a case report.

Authors:  Ahmadreza Afshar
Journal:  J Hand Microsurg       Date:  2011-05-07

4.  Identification of a Novel 14q13.3 Deletion Involving the SLC25A21 Gene Associated with Familial Synpolydactyly.

Authors:  K Meyertholen; J B Ravnan; R Matalon
Journal:  Mol Syndromol       Date:  2012-06-13

5.  A High Prevalence Rate of Tibia Hemimelia in a Subregion of West Azarbaijan, Iran.

Authors:  Hasan Taleb; Ahmadreza Afshar; Isa Abdi Rad; Ali Tabrizi; Reza Babaei Ghazani; Amin Bateni
Journal:  J Pediatr Genet       Date:  2019-06-26
  5 in total

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