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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]
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 arm (18p-) of chromosome 18, individuals with ring 18 can have features of both 18p-as well as distal 18q-.
1 per 5,000 births [3] Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [3] Babies are often born small and have heart defects. [3] Other features include a small head, small jaw, clenched fists with overlapping ...
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. [1] Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), occult, dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of ...
Beckwith–Wiedemann syndrome (/ ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə. m ə n /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents ...
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]
Middle cerebral artery syndrome is a condition whereby the blood supply from the middle cerebral artery (MCA) is restricted, leading to a reduction of the function of the portions of the brain supplied by that vessel: the lateral aspects of frontal, temporal and parietal lobes, the corona radiata, globus pallidus, caudate and putamen.
007291. [edit on Wikidata] Endoscopic thoracic sympathectomy (ETS) is a surgical procedure in which a portion of the sympathetic nerve trunk in the thoracic region is destroyed. [1][2] ETS is used to treat excessive sweating in certain parts of the body (focal hyperhidrosis), facial flushing, Raynaud's disease and reflex sympathetic dystrophy.