Related Experiment Video
Updated: Aug 26, 2025

Generation of Chimeric Axolotls with Mutant Haploid Limbs Through Embryonic Grafting
Published on: January 29, 2020
Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly
Susumu Saito1, Aiko Makino1, Hiroki Yamanaka1
1Department of Plastic and Reconstructive Surgery, Graduate School of Medicine and Faculty of Medicine, Kyoto University, Kyoto, Japan.
Abstract:
This study systematically and comprehensively analysed 129 thumb polydactylies in 122 patients using a duplicating range concept based on the level of skin and skeletal bifurcation. Numerical levels were defined along the longitudinal axis of the ulnar thumb duplicate from distal to proximal: level 0 (thumb tip) to level 6 (carpometacarpal joint). The relationships between duplication range and morphological parameters were evaluated. Nail asymmetry was associated with skin bifurcation levels 0 to 2. Proximal phalangeal asymmetry and interphalangeal joint deviation, associated with skin bifurcation levels were assigned scores of 1 to 2.5 and 1 to 2, respectively. Metacarpophalangeal joint deviation had a bimodal distribution, at levels 1.5 and 4 of the longitudinal axes. Morphological similarity was found in patients with the same duplication range. The duplication range concept could potentially improve our understanding of morphology variation and predicting prognoses in thumb polydactyly.Level of evidence: III.
Related Concept Videos
Changes in the Appendicular Skeleton with Age
Initially, the limb buds consist of a core of mesenchyme covered by a layer of ectoderm. The ectoderm at the end of the limb bud thickens to form a narrow crest called the apical ectodermal ridge. This ridge stimulates the underlying...
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Polytene Chromosomes
Karyotyping
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

