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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.
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.
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.
Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. [ 7] The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1), which is ...
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. [6] Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. [6]
Additional signs could include discussing suicide or death, losing interest in socializing with friends, an inability to concentrate, feeling irritable, overly anxious, or excessively angry, and ...
Acro–dermato–ungual–lacrimal–tooth syndrome. Activation syndrome. Acute aortic syndrome. Acute brain syndrome. Acute chest syndrome. Acute coronary syndrome. Acute HME syndrome. Acute interstitial pneumonitis. Acute motor axonal neuropathy.