A case of VATER association associated with 9qh+

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Once the aorta traverses the diaphragmatic plane at the aortic hiatus, it is known as the abdominal aorta. This anatomical structure is positioned leftward of the spinal column, encased within a cocoon of adipose tissue behind the peritoneal cavity. It terminates at the L4 vertebra, where it splits into the common iliac arteries. Prior to this bifurcation, the abdominal aorta gives rise to several vital branches.
The celiac trunk, a singular artery, divides into the left gastric artery, which...

The azygos system is a crucial part of the body's circulatory system and drains most of the thorax. It comprises the azygos, hemiazygos, and accessory hemiazygos veins.
The azygos vein, positioned just right of the midline and anterior to the vertebral column, begins at the junction of the right ascending lumbar and subcostal veins, terminating in the superior vena cava. This vein drains blood from the right side of the thoracic wall, thoracic viscera, and posterior abdominal wall.
The...

The human body is a complex system of interconnected parts, and the circulatory system plays a crucial role in maintaining overall health. One key component of this system is the inferior vena cava, a large vein responsible for returning blood from the abdominopelvic viscera and abdominal walls to the heart.
The inferior vena cava is fed by numerous smaller veins. The lumbar veins, for instance, drain the posterior abdominal wall, emptying both directly into the inferior vena cava and into the...

Esophageal varices are dilated, tortuous veins which are found mainly in the submucosa of the lower esophagus but which may also appear higher up or extend into the stomach. They develop due to increased pressure in the portal venous system, often as a result of liver cirrhosis. This condition scars and damages the liver, impeding normal blood flow through the portal vein. To compensate, blood seeks alternative pathways, forming fragile new vessels (varices) in the esophagus and stomach. These...

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...