What is Xq28 duplication?

What is Xq28 duplication?

An Xq28 duplication means that the cells of the body have an extra amount of genetic material from one of their 46 chromosomes – the X chromosome. These duplications can be variable in size but those that are too small to be visible under the microscope are called microduplications.

What causes MECP2 duplication?

Causes. MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome.

What is the Xq28 chromosome?

Xq28 is a chromosome band and genetic marker situated at the tip of the X chromosome which has been studied since at least 1980. The band contains three distinct regions, totaling about 8 Mbp of genetic information.

What causes chromosomal duplication?

Often, these alterations happen due to errors during cell division when chromosomes align (Figure 1). Homologous recombination between areas of concentrated repeated sequences frequently creates deletions and duplications.

How many genes are in Xq28?

The region spans 7.75 megabases of genomic DNA [8] and harbours 105 non-redundant, confirmed protein-coding genes (NCBI Map Viewer [7]). To date, more than 40 diseases have been mapped to Xq28. For 26 of these, the causative genes have been identified.

Is duplication mutation harmful?

Duplication creates genetic redundancy, where the second copy of the gene is often free from selective pressure—that is, mutations of it have no deleterious effects to its host organism.

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.