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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.
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.
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]
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]
Distal myopathy. Red depicts the preferentially affected areas in distal myopathy. Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Many types involve dysferlin.