What happens if you have an extra chromosome 17?
The symptoms reported include: developmental delays, body asymmetry, slow growth, and cerebellar hypoplasia. Again, signs and symptoms may vary in these individuals depending on which cells and how many cells contain an extra chromosome 17.
How common is 17q12 deletion syndrome?
The worldwide prevalence of 17q12 deletion syndrome is unknown, although the condition appears to be rare. One study estimated that 17q12 deletion syndrome occurs in 1 in 14,500 people in Iceland.
What do you know about any of those disorders chromosome 17?
Human chromosome 17 is implicated in a wide range of human genetic diseases. It is home to genes involved in early-onset breast cancer (BRCA1), neurofibromatosis (NF1) and the DNA damage response (TP53 encoding the p53 protein).
What happens if you have an extra chromosome?
For example, an extra copy of chromosome 21 causes Down syndrome (trisomy 21). Chromosomal abnormalities can also cause miscarriage, disease, or problems in growth or development. The most common type of chromosomal abnormality is known as aneuploidy, an abnormal chromosome number due to an extra or missing chromosome.
What diseases are caused by an extra chromosome?
Trisomy disorders
- Humans have 23 pairs of chromosomes.
- A trisomy is a chromosomal condition characterised by an additional chromosome.
- A person with a trisomy has 47 chromosomes instead of 46.
- Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy.
What does chromosome 17 indicate?
What is 17q12 deletion syndrome?
Summary Summary. 17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome.
What is chromosome 17p duplication?
Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved.
What is chromosome 17?
Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research.
What is the difference between deletions duplications and translocations?
Deletions: A portion of the chromosome is missing or deleted. Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material. Translocations: A portion of one chromosome is transferred to another chromosome.