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Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells. In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human ...
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.
Most cases of 22q11.2 deletion syndrome are caused by the deletion of a small piece of chromosome 22. This region of the chromosome contains about 30 genes , including the TBX1 gene. In a small number of affected individuals without a chromosome 22 deletion, mutations in the TBX1 gene are thought to be responsible for the characteristic signs ...
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.
The shorter arm of a chromosome is termed the p arm or p-arm, while the longer arm is the q arm or q-arm. The chromosomal locus of a typical gene, for example, might be written 3p22.1, where: [citation needed] 3 = chromosome 3; p = p-arm; 22 = region 2, band 2 (read as "two, two", not "twenty-two") 1 = sub-band 1
Various deletions affect the terminal region of the long arm of chromosome 22 (the paternal chromosome in 75% of cases, [citation needed]) from 22q13.3 to 22qter. Although the deletion is most typically a result of a de novo mutation, there is an inherited form resulting from familial chromosomal translocations involving the 22 chromosome.
[1] [2] Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity: (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader–Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. [3]
In humans, chromosomes Y and 22 have the greatest proportion of SDs: 50.4% and 11.9% respectively. [2] SRGAP2 is an SD. Misalignment of LCRs during non-allelic homologous recombination (NAHR) [ 3 ] is an important mechanism underlying the chromosomal microdeletion disorders as well as their reciprocal duplication partners. [ 4 ]