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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]
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3] [4]
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]
Chromosome 16. Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common autosomal trisomy leading to miscarriage, and the second most common chromosomal cause (closely following X-chromosome monosomy). [2]
Dup15q syndrome is the common name for maternally inherited chromosome 15q11.2-q13.1 duplication syndrome. This is a genomic copy number variant that leads to a type of neurodevelopmental disorder , caused by partial duplication of the proximal long arm of Chromosome 15 .
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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.
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