Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome

The subclavian artery transitions into the axillary artery as it exits the chest and enters the axillary region. This artery is critical for supplying blood to the shoulder area, including the head of the humerus, through the humeral circumflex arteries. As the vessel continues into the upper arm or brachium, it becomes the brachial artery. This artery plays a key role in vascularizing the brachial region and bifurcates at the elbow into several branches. These branches include the deep...

The human circulatory system, a marvel of biological engineering, is a complex network of vessels that transport blood throughout the body. Among these, the veins responsible for carrying blood from the upper limbs are divided into two categories: deep and superficial.
The deep venous system is primarily composed of the ulnar and radial veins. The ulnar vein, which drains the fingers through the superficial palmar venous arches, and the radial vein, which serves the palms via the deep palmar...

The upper limb consists of the arm, forearm, wrist, and hand bones. The humerus is the single bone of the upper arm region. Proximally, it has a large, spherical, smooth head that articulates with the glenoid cavity of the scapula to form the glenohumeral or shoulder joint. The margin of the head is the anatomical neck, a residual epiphyseal plate. Laterally it extends to form bony projections called the greater tubercle and the lesser tubercle. Next to the tubercles is the surgical neck, a...

The ulna and radius are parallel bones of the antebrachium or the forearm. The ulna lies medially and consists of a bony tip called the olecranon process at its proximal end. This hook-like projection articulates with the olecranon fossa of the humerus and forms the "hinged" ulnohumeral part of the elbow joint. This joint facilitates forearm extension and flexion while preventing its hyperextension. Similarly, the coronoid process, another bony projection on the proximal/anterior side...

The radius is longer of the two bones that make up the human antebrachium or forearm. At the proximal end, the radius articulates with the capitulum of the humerus and the radial notch of the ulna to form the elbow joint. At the distal end, the radius articulates with the ulna via the ulnar notch, forming the distal radioulnar joint. Distally, the radius also attaches to the carpal wrist bones (scaphoid and lunate) to form the radiocarpal joint.
The radius has a nail-shaped head, and a...

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...