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Spinal Dysraphism (SD), also known as Myelodysplasia, is a hereditary neurological disorder present at birth due to an error in the development of an embryo.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.449delinsTT |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | SD; Myelodysplasia |
Información específica de la prueba
Spinal Dysraphism (SD), also known as Myelodysplasia, is a hereditary neurological disorder present at birth due to an error in the development of an embryo. The disease is part of a group disorders known as Neural Tube Defects (NTDs). This mutation is found in the Weimaraner breed and caused by a mutation in the NKX2-8 gene.
Características clínicas
Los perros afectados tienen un canal espinal defectuoso que está causando anomalías neurológicas. Los perros pueden tener marchas anormales que incluyen el movimiento simultáneo de las patas traseras, lo que se conoce como "Bunny Hopping". Otros signos clínicos son debilidad y falta de coordinación en la parte trasera, postura amplia y reflejos anormales en las extremidades posteriores.
Información adicional
Referencias
Pubmed ID: 23874236
Year published: 2013
Omia ID: 938
Omia variant ID: 622