What is duplication in cytogenetics?

​Duplication Duplication, as related to genomics, refers to a type of mutation in which one or more copies of a DNA segment (which can be as small as a few bases or as large as a major chromosomal region) is produced. Duplications occur in all organisms.

What does Xq22 mean?

Xq22 encompasses an approximately 10 Mb genomic interval on the X chromosome in which ~100 annotated genes map; PLP1 is one of the 14 disease-associated genes mapping to this interval.

What is Interchromosomal duplication?

1. Interchromosomal – Sequence duplicated onto non-homologous chromosomes. 2. Intrachromosomal – Sequence duplicated onto the same chromosome, often into the same chromosome region. These duplications are typically referred to as “region- or chromosome-specific low-copy repeats (LCR)”

What is Trisomy duplication?

General Discussion. Trisomy 5p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 5 (5p) appears three times (trisomy) rather than twice in cells of the body. Often the duplicated portion of 5p (trisomy) is due to a complex rearrangement involving other chromosomes.

What do you mean by DNA replication?

DNA replication is the process by which a double-stranded DNA molecule is copied to produce two identical DNA molecules. Replication is an essential process because, whenever a cell divides, the two new daughter cells must contain the same genetic information, or DNA, as the parent cell.

What is segment duplication?

Segmental duplications (SDs) are long DNA sequences that are repeated in a genome and have high sequence identity. In contrast to repetitive elements they are often unique and only sometimes have multiple copies in a genome.

What is the difference between deletion duplication inversion and translocation?

– One gamete with inversion – One gamete with a duplication and deletion. – One gamete with reciprocal duplication and deletion. – One gamete with inversion – Two deletion products – Some material lost. A chromosomal translocation occurs when a segment of one chromosome becomes attached to another.

Is there a trisomy 1?

In all trisomies, trisomy 1 is the most rare case. There have so far only been three case reports of a full trisomy 1 in the literature.

What is the difference between a chromosomal deletion and duplication?

Deletions occur when a chromosome breaks and some genetic material is lost. Deletions can be large or small, and can occur anywhere along a chromosome. Duplications. Duplications occur when part of a chromosome is abnormally copied (duplicated).

What are the 4 types of chromosomal aberrations?

The four main types of structural chromosomal aberrations are deletion, duplication, inversion, and translocation.

What is another word for DNA replication?

Synonyms

Synonym	Type
DNA replication-dependent nucleosome assembly	broad

What is duplication of data called?

Duplication of data is called data redundancy. Duplication of data should be checked always as data redundancy takes up the free space available in the computer memory. Data redundancy occurs when the same piece of data is stored in two or more separate places and is a common occurrence.

What are the two main types of repetitive sequences?

Repetitive DNA can be divided into two classes: the tandem repetitive sequences (known as satellite DNA) and the interspersed repeats.

What is tandem duplication in biology?

Tandem exon duplication is defined as duplication of exons within the same gene to give rise to the subsequent exon. A complete exon analysis of all genes in Homo sapiens, Drosophila melanogaster, and Caenorhabditis elegans has shown 12,291 instances of tandem duplication in exons in human, fly, and worm.

What is the difference between inversions and translocations?

Both inversion and translocation are alterations of chromosomal segments. The main difference between inversion and translocation is that inversion is the change in the orientation of a segment of chromosome whereas translocation is the interchange of the parts of chromosomes between nonhomologous chromosomes.

What are the 4 types of chromosomal mutations?

The four main types of structural chromosomal aberrations are deletion, duplication, inversion, and translocation. Deletions occur when a portion of the chromosome is deleted, or taken out, which can make that chromosome less functional.

What is trisomy 1 called?

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.