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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 ...
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 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).
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
The largest regions on each chromosome are the short arm p and the long arm q, separated by a narrow region near the center called the centromere. [1] Other specific regions have also been defined, some of which are similarly found on every chromosome, while others are only present in certain chromosomes. Named regions include: Arms (p and q ...
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.
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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]