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Specialty. Medical genetics. Distal 18q- is a genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. [1] The deletion involves the distal section of 18q and typically extends to the tip of the long arm of chromosome 18. [2]
Signs and symptoms. Ring 18 causes a wide range of medical and developmental concerns. As discussed above, people with ring 18 can have features of both distal 18q-and 18p-. The features of distal 18q-and 18p-vary greatly because of the variability of the deletion size and breakpoint locations between people.
Proximal 18q-is a rare genetic condition caused by a deletion of genetic material within one of the two copies of chromosome 18. This deletion involves the proximal (near the centromere ) section of the long arm of chromosome 18 somewhere between 18q11.2 (18.9 Mb) to 18q21.1 (43.8 Mb). [1]
Hypertrophic Osteodystrophy (HOD) is a bone disease that occurs most often in fast-growing large and giant breed dogs; however, it also affects medium breed animals like the Australian Shepherd. The disorder is sometimes referred to as metaphyseal osteopathy, and typically first presents between the ages of 2 and 7 months. [1]
18p-. 18p-, also known as monosomy 18p, deletion 18p syndrome, del (18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births. [ 1 ]
Pycnodysostosis. Pycnodysostosis (from Greek: πυκνός [puknos] meaning "dense", [ 1] dys ["defective"], and ostosis ["condition of the bone"]), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. [ 2] It is also known as PKND and PYCD. [ 3]
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper , associated with mutations in the ATP7A gene.
Degenerative lumbosacral stenosis ( DLSS ), also known as cauda equina syndrome, is a pathologic degeneration in the lumbosacral disk in dogs; affecting the articulation, nerve progression, tissue and joint connections of the disk. [1] [2] This degeneration causes compressions in soft tissues and nerve root locations in the ultimate caudal area ...