What syndromes are caused by translocation?

What syndromes are caused by translocation?

Translocation Down syndrome is a type of Down syndrome that is caused when one chromosome breaks off and attaches to another chromosome. In this case, there are three 21 chromosomes, but one of the 21 chromosomes is attached to another chromosome.

Which molecular defect could cause Prader-Willi syndrome?

The most common molecular defect giving rise to these syndromes is a large chromosomal deletion (∼4 Mb) that includes a large cluster of imprinted genes (2–3 Mb) and a non-imprinted domain (1–2 Mb) ( 9 , 10 ). Paternal inheritance of the deletion results in PWS while maternal inheritance produces AS.

What is translocation in Down syndrome?

Translocation Down syndrome refers to the rearranged chromosome material. There are three # 21 chromosomes, just like there are in trisomy 21, but one of the 21 chromosomes is attached to another chromosome, instead of being separate. The extra # 21 chromosome is what causes the problems that make up Down syndrome.

What is the translocation type of Down syndrome?

Translocation Down syndrome refers to the type of Down syndrome that is caused by rearranged chromosome material. In this case, there are three # 21 chromosomes, just like there are in trisomy 21, but one of the 21 chromosomes is attached to another chromosome, instead of being separate.

Can someone with a balanced translocation have a successful pregnancy?

Most men and women with a balanced translocation are able to have children. It may take longer for a pregnancy to be established because a proportion of their sperm or eggs have unbalanced chromosomes and any embryos cannot survive.

How common is translocation Down syndrome?

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies. Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).

What is the cause of Prader Willi syndrome?

This phenomenon is called maternal uniparental disomy. Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a translocation, or by a mutation or other defect that abnormally turns off (inactivates) genes on the paternal chromosome 15.

How many copies of chromosome 15 does Prader Willi syndrome have?

In another 25 percent of cases, a person with Prader-Willi syndrome has two copies of chromosome 15 inherited from his or her mother (maternal copies) instead of one copy from each parent. This phenomenon is called maternal uniparental disomy.

What is the foundation for Prader-Willi research?

The Foundation for Prader-Willi Research provides an overview of diagnosis and treatment for Prader-Willi syndrome. Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them.