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.
These are genetic diseases that are due to an abnormal number or structure of the chromosomes. A frequent chromosome anomaly is Down syndrome. These are genetic diseases that are due to a mutation(s) in only 1 gen. They can be inherited in different ways: autosomal dominant, autosomal recessive, X-linked or Y-linked. Frequent monogenic diseases are cystic fibrosis, thalassemia and fragile X syndrome.