What diseases are caused by duplication mutation?

What diseases are caused by duplication mutation?

Deletions, Duplications, and Disease

Genetic Disease Type of Rearrangement Location Affected
Charcot-Marie-Tooth disease type I Duplication 17p12
Hereditary neuropathy with pressure palsies Deletion 17p12
Smith-Magenis syndrome Deletion 17p11.2
Williams-Beuren syndrome Deletion 7q11.23

What is the cause of duplication mutation?

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 is a duplication mutation in DNA?

​Duplication Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome. Gene and chromosome duplications occur in all organisms, though they are especially prominent among plants. Gene duplication is an important mechanism by which evolution occurs.

How does duplication mutation affect DNA?

Duplication creates genetic redundancy and if one copy of a gene experiences a mutation that affects its original function, the second copy can serve as a ‘spare part’ and continue to function correctly.

What is an example of duplication mutation?

If a deletion is a missing ingredient in the recipe, a duplication is an extra ingredient. One example of a rare genetic disorder of duplication is called Pallister Killian syndrome, where part of the #12 chromosome is duplicated.

Is Down Syndrome a duplication mutation?

Causes. Most cases of Down syndrome result from trisomy 21 , which means each cell in the body has three copies of chromosome 21 instead of the usual two copies.

Can you be a carrier of trisomy 21?

A carrier will have the extra material but will have only one chromosome 21. The carrier will not exhibit any of the symptoms of Down syndrome because they have the correct amount of genetic material.