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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]
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]
17q12 microdeletion syndrome. 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome.
H&E stain. Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare cancer that primarily occurs as masses in the abdomen. [4] Other areas affected may include the lymph nodes, the lining of the abdomen, diaphragm, spleen, liver, chest wall, skull, spinal cord, large intestine, small intestine, bladder, brain, lungs, testicles ...
Esophageal cancer. Esophageal cancer is cancer arising from the esophagus —the food pipe that runs between the throat and the stomach. [2] Symptoms often include difficulty in swallowing and weight loss. [1] Other symptoms may include pain when swallowing, a hoarse voice, enlarged lymph nodes ("glands") around the collarbone, a dry cough, and ...
Oesophagogastric junctional adenocarcinoma (OGJ adenocarcinoma) is a cancer of the lower part of the oesophagus with a rising incidence in Western countries. [1] This disease is often linked to Barrett's oesophagus . The incidence of OGJ adenocarcinoma is rising rapidly in Western countries especially in recent decades, in contrast to the ...
Y chromosome microdeletion. 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 ...
The estimate suggests that the condition is slightly less common than Rett syndrome, a genetic disorder that causes babies to rapidly lose coordination, speech and mobility and affects about 1 in ...