Recurrent chromosomal deletions
and duplications are observed in leukemia patients as unbalanced structural chromosomal abnormalities.
Genetic alterations of the PTEN gene at the level of mutations or chromosomal deletions
are frequently found in high-grade gliomas (Table 1).
The investigators performed a genome-wide analysis of large, rare chromosomal deletions
and duplications known as copy number variants (CNVs) in 366 children with ADHD and 1,047 controls.
Chromosomal microarray analysis is similar to a karyotype, but can find much smaller chromosomal deletions
It has been used to identify signaling and metabolic pathways associated with tumor progression, as well as to detect submicroscopic chromosomal deletions
and duplications in patients with mental retardation and other disabilities.
This factor, combined with the ability to quantitatively analyze submicroscopic chromosomal deletions
and amplifications, makes MassARRAY QGE a powerful tool for cancer research.
Researchers have learned that if chromosomal deletions
or other genetic alterations rob a cell of the function of a tumor suppressor gene, that cell can ignore the strict regulations on cell growth and division that the body ordinarily imposes.
That year, they and four other parents started Chromosome Deletion Outreach, a matching group for all conditions caused by chromosomal deletions
, additions and inversions.