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22q11.2 duplication syndrome is a rare genetic disorder caused by a duplication of a segment at the end of chromosome 22.
The cause of M2DS is a duplication of the MECP2 or Methyl CpG binding protein 2 gene located on the X chromosome (Xq28). [5] The MeCP2 protein plays a pivotal role in regulating brain function. Increased levels of MECP2 protein results in abnormal neural function and impaired immune system. [4]
The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). The two major two-chromosome mutations: insertion (1) and translocation (2). When the chromosome's structure is altered, this can take several forms: [16] Deletions: A portion of the chromosome is
16p11.2 duplication syndrome is a genetic condition caused by duplication of region on chromosome 16. The odds of developing autism spectrum disorder are elevated and comparable to the rate with 16p11.2 deletion. The rate of having ADHD is higher than in people with deletion. [1] [2]
Chromosome 2 is one of the twenty-three pairs of chromosomes in humans. People normally have two copies of this chromosome. People normally have two copies of this chromosome. Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs [ 4 ] and representing almost eight percent of the total DNA in human cells .
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]
2p15-16.1 microdeletion is an extremely rare genetic disorder caused by a small deletion in the short arm of human chromosome 2. First described in two patients in 2007, [1] by 2013 only 21 [citation needed] people have been reported as having the disorder in the medical literature. [2] [3] [4] [5]
Xp11.2 duplication is a genomic variation marked by the duplication of an X chromosome region on the short arm p at position 11.2, defined by standard karyotyping . This gene-rich, rearrangement prone region can be further divided into three loci - Xp11.21, Xp11.22 and Xp11.23.