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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.
Remitting seronegative symmetrical synovitis with pitting edema (or sometimes RS3PE) is a rare syndrome identified by symmetric polyarthritis, synovitis, acute pitting edema (swelling) of the back of the hands and/or feet, and a negative serum rheumatoid factor. [2] If no underlying disorder can be identified (idiopathic RS3PE), this entity has an excellent prognosis and responds well to ...
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] Exact breakpoints vary.
Ring 18 causes a wide range of medical and developmental concerns. [3] 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. [4] Because ring 18 can involve unique deletions of both the p and q arms of the chromosome there ...
TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. [ 1 ]
The most common problem is carpal tunnel syndrome caused by compression of the median nerve by swelling around the wrist. Rheumatoid disease of the spine can lead to myelopathy . Atlanto-axial subluxation can occur, owing to erosion of the odontoid process and/or transverse ligaments in the cervical spine 's connection to the skull.
Aortoiliac occlusive disease. In medicine, aortoiliac occlusive disease is a form of central artery disease involving the blockage of the abdominal aorta as it transitions into the common iliac arteries.
Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing genes in the Y chromosome. Many men with YCM exhibit no symptoms and lead normal lives. It is present in a significant number of men with reduced fertility. [1] Reduced sperm production varies from oligozoospermia, significant lack of sperm, or azoospermia, complete lack of sperm.