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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]
Signs and symptoms. Ring 18 causes a wide range of medical and developmental concerns. As discussed above, people with ring 18 can have features of both distal 18q-and 18p-. The features of distal 18q-and 18p-vary greatly because of the variability of the deletion size and breakpoint locations between people.
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 ...
Medical genetics. 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] Exact breakpoints vary.
Researchers from Lund University have found that a new blood test called PrecivityAD2 is about 90% accurate in identifying Alzheimer’s disease in people experiencing cognitive symptoms. As with ...
A new study finds that 9 out of 10 adults in the U.S. may have cardiovascular-kidney-metabolic (CKM) syndrome. The research found 90% of adults qualify for stage 1 or higher of this condition.
1q21.1 duplication syndrome, also known as 1q21.1 microduplication, is an uncommon copy number variant associated with several congenital abnormalities, including developmental delay , dysmorphic traits, autism spectrum disorder , and congenital cardiac defects. [1] Common facial features include frontal bossing, hypertelorism, and macrocephaly ...
The survey also found that 18% of people erroneously named cancer as the leading cause of death, while 16% said they didn’t know, and 49% correctly identified heart disease.