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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]
Individuals with ring 18 have one of their two copies of chromosome 18 that has formed the shape of a ring. The ring is formed when the caps on both the long arm (q) and the short arm (p) of one copy of chromosome 18 are lost and the new ends re-join to form the ring. Because the ring involves deletions of both the long arm (18q-) and the short ...
The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of ...
747.1 Coarctation of aorta. 747.11 Interruption of aortic arch. 747.2 Other congenital anomalies of aorta. 747.3 Congenital anomalies of pulmonary artery. 747.4 Congenital anomalies of great veins. 747.5 Absence or hypoplasia of umbilical artery. 747.6 Arteriovenous malformation, unspec.
Pes cavus. Pes cavus. Other names. High instep, high arch, talipes cavus, cavoid foot, supinated foot. High arch in foot of a person with a hereditary neuropathy. Specialty. Medical genetics, Podiatry. Pes cavus, also known as high arch, is a human foot type in which the sole of the foot is distinctly hollow when bearing weight.
Popliteal artery entrapment syndrome. Young athlete males. The popliteal artery entrapment syndrome (PAES) is an uncommon pathology that occurs when the popliteal artery is compressed by the surrounding popliteal fossa myofascial structures. [ 1] This results in claudication and chronic leg ischemia.
Dr. Wasan shares that there are several organs located on the right side of the body that can cause pain, including the lungs, gallbladder, pancreas, appendix, colon or even kidneys. However, some ...
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]