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22q11.2 deletion syndrome: Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated as q11.2. This region contains about 30 genes, but many of these genes have not been well characterized.
The DGCR2 gene encodes the protein integral membrane protein DGCR2/IDD in humans. [5] [6] [7]Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22.
Transport and golgi organization 2 homolog also known as chromosome 22 open reading frame 25 (C22orf25) is a protein that in humans is encoded by the TANGO2 gene. [citation needed] The gene coding for C22orf25 is located on chromosome 22 and the location q11.21, so it is often associated with 22q11.2 deletion syndrome. [41]
The formations of nucleoli takes place around the NOR region. The secondary constriction also contains the genes for rRNA synthesis (18S rRNA, 5.8S rRNA, and 28S rRNA). Genes for 5S rRNA are present on chromosome 1. Due to secondary constriction, a knob-like structure is formed at the end called a satellite chromosome (SAT chromosome).
These microduplications likely represent the predicted reciprocal rearrangements to the microdeletions characterized in the 22q11.2 region. [2] Smaller microduplications may occur within this highly dynamic with frequent rearrangements using alternative low-copy repeats as recombination substrates within and distal to the DiGeorge syndrome region.
For example, the locus of gene OCA1 may be written "11q1.4-q2.1", meaning it is on the long arm of chromosome 11, somewhere in the range from sub-band 4 of region 1 to sub-band 1 of region 2. [citation needed] The ends of a chromosome are labeled "pter" and "qter", and so "2qter" refers to the terminus of the long arm of chromosome 2. [citation ...
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
Which are essentially instructions for everything from development to day-to-day survival, and these genes are spread out across 23 pairs of chromosomes. 22q11.2 is like an address, so 22 stands for chromosome 22, with q designating the long arm of the chromosome, then it’s on region 1, band 1, and sub-band 2.