Related Content: Abstract: Efficient tools for profiling DNA methylation in specific genes are essential for epigenetics and clinical diagnostics. Current DNA methylation profiling techniques have been limited by inconvenient implementation, requirements of specific reagents, and ...
Autosomal Trisomy Chromosome Diseases. The 22 non-sex autosome chromosomes (autosomes) can also exhibit disorders, of which the most common is trisomy (having 3 copies rather than a pair). Because these are disorders of the autosomes and not the sex chromosomes, these disorders can occur with males or females.
1 Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material. 2  Known disorders include Charcot-Marie-Tooth disease type 1A which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. Deletions: A portion of the chromosome is missing or deleted. 2  Known disorders include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder.