Gene mapping in syndactyly families [Elektronische Ressource] / by Sajid Perwaiz Malik

Zentrum für Humangenetik Philipps-Universität Marburg Director: Prof. Dr. rer. nat. Karl-Heinz Grzeschik Working group: Prof. Dr. med. Manuela C. Koch Gene Mapping in Syndactyly Families Inaugural thesis for the degree of a Doctor in Human Biology (Dr. rer. physiol.) presented to the Fachbereich Humamedizin der Philipps-Universität Marburg, Germany by Sajid Perwaiz Malik from DG Khan, Pakistan Marburg, February 2005 Angenommen vom Fachbereich Humanmedizin der Philipps-Universität Marburg am .............. Gedruckt mit Genehmigung des Fachbereichs Dekan: Prof. Dr. med. Bernhard Maisch Referent: Prof. Dr. med. Manuela C. Koch Correferent: Prof. Dr. ..................................... Contents CONTENTS 1 INTRODUCTION 1 1.1 Classification of syndactylies 1 1.1.1 Syndactyly Type I (SD1; MIM 185900) 4 1.1.2 Syndactyly Type II, Synpolydactyly (SPD; MIM 186000) 4 1.1.3 Syndactyly Type III (MIM 186100) 5 1.1.4 Syndactyly Type IV, Haas Type Syndactyly (MIM 186200) 5 1.1.5 Syndactyly Type V (MIM 186300) 5 1.1.6 Syndactyly Type VI, Mitten syndactyly 6 1.1.7 Syndactyly Type VII, Cenani-Lenz Syndactyly (MIM 212780) 6 1.1.8 Syndactyly Type VIII 6 1.2 Animal models for syndactyly 7 1.2.1 Synpolydactyly homologue (spdh) and Hoxd13 7 Jrt +1.2.2 Syndactyly 1, Sndy1 (Sndy1 /Sndy1 ) 7 1.3 Limb development 8 1.3.