What is 17q12 duplication syndrome?
17q12 duplication occurs when a portion of chromosome 17 is duplicated. When the duplication is inherited from a parent, it is inherited in an autosomal dominant manner. The duplication may be suspected if a doctor sees signs and symptoms such as developmental delay, behavioral problems, and intellectual disability.
What chromosome is 12q13?
Table 1
| Features | Present | DECIPHER 271054 |
|---|---|---|
| Chromosome regions | 12q13.13 | 12q13.13 |
| Genomic coordinates | ||
| (hg18)a | ||
| (hg19) | 53,217,136–54,018,772 | 53,627,092–54,111,152 |
What causes a duplication?
Duplications arise from an event termed unequal crossing-over that occurs during meiosis between misaligned homologous chromosomes. The chance of it happening is a function of the degree of sharing of repetitive elements between two chromosomes.
What does Phelan-McDermid syndrome do?
Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.
How common is 17q12 duplication?
17q12 duplications appear to be uncommon. Several dozen people with this chromosomal change have been described in the medical literature.
Which one of the following genetic abnormalities are most seen in cancers?
The most commonly mutated gene in all cancers is TP53, which produces a protein that suppresses the growth of tumors. In addition, germline mutations in this gene can cause Li-Fraumeni syndrome, a rare, inherited disorder that leads to a higher risk of developing certain cancers.
Why might a chromosomal duplication be harmful?
Since a very small piece of a chromosome can contain many different genes, the extra genes present in a duplication may cause those genes to not function properly. These “extra instructions” can lead to errors in the development of a baby.
What cancers are genetically linked?
This inherited risk for cancer is caused by a small change (called a mutation) in a gene, which can be passed from one generation to the next in a family….Some cancers that can be hereditary are:
- Breast cancer.
- Colon cancer.
- Prostate cancer.
- Ovarian cancer.
- Uterine cancer.
- Melanoma (a type of skin cancer)
- Pancreatic cancer.