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Related Concept Videos

Functional Classification of Joints01:09

Functional Classification of Joints

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Functional Classification of Joints
The functional classification of joints is determined by the amount of mobility between the adjacent bones. Joints are functionally classified as a synarthrosis or immobile joint, an amphiarthrosis or slightly moveable joint, or as a diarthrosis, a freely moveable joint. Fibrous and cartilaginous joints can be functionally classified as either synarthroses  or amphiarthroses, whereas all synovial joints are classified as diarthroses.
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Nondisjunction01:21

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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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Related Experiment Video

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Functional classification and mutation analysis of a synpolydactyly kindred.

Jianda Zhou1, Yao Chen1, Ke Cao1

  • 1Department of Plastic Surgery, Third Xiangya Hospital, Central South University, Changsha, Hunan 410013, P.R. China.

Experimental and Therapeutic Medicine
|October 8, 2014
PubMed
Summary

A new functional classification for syndactyly/polydactyly was developed. Genetic analysis revealed a HOXD13 gene mutation causing autosomal dominant hereditary synpolydactyly in a kindred.

Keywords:
HOXD13 genefunctional classificationlinkagepolydactylysyndactyly

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Area of Science:

  • Genetics
  • Orthopedics
  • Developmental Biology

Background:

  • Congenital syndactyly/polydactyly is a complex limb malformation.
  • Existing classification methods may not fully capture functional impact.
  • Understanding genetic mechanisms is crucial for diagnosis and treatment.

Purpose of the Study:

  • To analyze a kindred with congenital syndactyly/polydactyly.
  • To propose a novel, clinically significant functional classification system.
  • To determine inheritance patterns and underlying genetic mutations.

Main Methods:

  • Clinical assessment including photographic and X-ray imaging.
  • Functional evaluation using grip ability tests.
  • Genetic analysis involving microsatellite genotyping and gene sequencing of the HOXD13 gene.

Main Results:

  • A new functional classification divided deformities into mild, moderate, and severe.
  • The family exhibited syndactyly type II with autosomal dominant inheritance.
  • A 27-bp insertion mutation in the HOXD13 gene, expanding a polyalanine tract, was identified in affected individuals.

Conclusions:

  • The identified HOXD13 gene mutation causes autosomal dominant hereditary synpolydactyly.
  • The proposed functional classification system can guide surgical treatment strategies.
  • This study elucidates the genetic basis and functional impact of synpolydactyly in this family.