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Breeds
Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds
GTPs
General
Disease Name
Chondrodysplasia, Disproportionate Short-limbed
Mutation
c.2083C>T
Test Type
Genetic Disease/Disorder
Details
reductions in length of long bones and torso, along with bowed front legs and growth plate disruptions
Details 2
As reported by Bingel and Sande (1982): "Radiographic changes included flaring and increased width of the distal metaphyses of the radius and ulna, delayed ossification of the cuboid bones of the carpus, and reduction in length of the vertebral bodies. The zone of chondrocyte proliferation was decreased in width and contained areas of abnormal cell column formation alternated with wide areas of matrix. Chondrocytes in all zones contained one or more inclusions bounded by a smooth discontinuous membrane. The material within the inclusions appeared homogeneous and stained blue-green with Movat's pentachrome and deep blue with alcian blue-periodic acid-Schiff at pH 1.0 and 2.6. The distribution of ruthenium red granules in the matrix frequently revealed poor differentiation into territorial and interterritorial zones". (from OMIA)
Published
Donner, J., Kaukonen, M., Anderson, H., Moller, F., Kyostila, K., Sankari, S., Hytonen, M., Giger, U., Lohi, H. : Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders, Plos One 2016.
https://doi.org/10.1371/journal.pone.0161005
