Sentences with phrase «deletion on chromosome»

One of them had a deletion on chromosome 22 that affected, among other genes, SHANK3, which has been implicated in mental retardation.

The syndrome is caused by a small deletion on chromosome 22.

Dr Siddharth Banka, Clinical Senior Lecturer at the Manchester Centre for Genomic Medicine, who led the study, explained: «Our team has identified that this new syndrome is caused by a small deletion on chromosome 6 that affects the function of hypothalamus, a region of the brain that plays a number of important roles in the body.»

Not exact matches

Deletion of the fission yeastpot1 + gene has an immediate effect on chromosome stability, causing rapid loss of telomeric DNA and chromosome circularization.

The system, however, is clearly not at all perfect; genetic deletion on the Y chromosome is one of the best - known causes of faulty sperm production.

«I was fascinated on how a genetic defect, a tiny deletion in one of our chromosomes, could make us friendlier, more empathetic and more able to embrace our differences,» Muotri said.

Scientists investigated Williams syndrome or WS, a rare genetic condition caused by deletion of one copy of 25 contiguous genes on chromosome 7, out of an estimated 30,000 genes in the brain.

For Scherer's part, he believes, from his preliminary observations of one family, that a deletion of DNA on the 16th chromosome may result in autism accompanied by mental retardation as well as disruptions in the aortic valve (one of the heart's four valves) that may cause seizures.

Using this analysis, the researchers identified deletions in the coding region of the gene (in exons E2 to E9, E5 to E9, E8, E10, E14, and E1 to E15), duplications (E11 to E12) on two chromosomes, and a nonsense mutation.

Finally, as we and others have shown, errors in chromosome segregation during mitosis have dramatic secondary consequences on genome integrity, including translocations, deletions and chromosome shattering (chromothripsis).

Any large deletions, or other rearrangements of part of a chromosome can be identified, and using modern nucleic acid probes, individual cloned genes can be placed on the polytene map.

The researchers also determined that amplification of a specific chromosome, and a particular gene called MAPK14 on that chromosome, may be a predictor of sensitivity to treatment, while deletions of other genes predicted resistance.