What disease is caused by chromosomal deletion?

Examples of chromosomal deletion syndromes include 5p-Deletion (cri du chat syndrome), 4p-Deletion (Wolf-Hirschhorn syndrome), Prader–Willi syndrome, and Angelman syndrome.

Is a chromosome deletion a rare disease?

Chromosome 4q deletion is a rare disorder that is present at birth and is estimated to occur in 1 out of 100,000 people. Chromosome 4q deletion can sometimes be identified before birth by ultrasound and prenatal chromosome analysis.

What causes gene deletion?

Deletions occur when there is homologous but unequal recombination between gene sequences. Similar sequences in the human genome can cross over during mitosis or meiosis, resulting in a shortened portion of the gene sequence.

How common is chromosome deletion?

22q11 deletion syndrome is the most common human chromosomal deletion syndrome occurring in approximately 1 per 4000–6000 live births [32].

What happens during chromosome deletion?

When parts of chromosomes are missing, a number of syndromes can occur. These syndromes are called chromosomal deletion syndromes. They tend to cause birth defects and limited intellectual development and physical development. In some cases, defects can be severe and affected children die during infancy or childhood.

What diseases are caused by deletion mutations?

Deletions are responsible for an array of genetic disorders, including some cases of male infertility, two thirds of cases of Duchenne muscular dystrophy, and two thirds of cases of cystic fibrosis (those caused by ΔF508). Deletion of part of the short arm of chromosome 5 results in Cri du chat syndrome.

Why does deletion happen?

Deletions can be caused by errors in chromosomal crossover during meiosis, which causes several serious genetic diseases. Deletions that do not occur in multiples of three bases can cause a frameshift by changing the 3-nucleotide protein reading frame of the genetic sequence.

How does gene deletion occur?

What is the outcome of deletion mutation?

A deletion changes the DNA sequence by removing at least one nucleotide in a gene. Small deletions remove one or a few nucleotides within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the affected protein or proteins.

What are some examples of genetic disorders?

Examples of these genetic disorders include heart disease, Alzheimer’s disease, and heart disease. In addition, chronic diseases such diabetes, cancer and arthritis are examples of this type of disorder. Multifactorial inheritance disorders are also associated with inherited traits such as height, skin color, and eye color.

What diseases are caused by chromosomal mutations?

But the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.

What causes deletion syndrome?

A deletion syndrome is a genetic disorder caused by the deletion of genetic material. Several congenital conditions including Cri Du Chat Syndrome , DiGeorge Syndrome , 22q13 deletion syndrome, and Phelan-McDermid Syndrome are examples of deletion syndromes.

What are the four types of chromosomal mutations?

The four main types of chromosomal mutations are deletion, duplication, inversion and translocation. A fifth chromosomal mutation is known as a deficiency.

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