What is 4p deletion?

What is 4p deletion?

Listen. Chromosome 4p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 4. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved.

What is 4p disease?

Chromosome 4, Trisomy 4p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and physical findings may vary greatly in range and severity from case to case.

What is 4p minus?

a syndrome associated with partial deletion of the short arm of chromosome 4, characterized by an undersized head, increased distance between the eyes, epicanthus, cleft palate, a small receding mandible, low-set ears that are simplified in form, undescended testes, and hypospadias.

What causes 4p deletion?

4p deletion syndrome, also known as Wolf-Hirschhorn syndrome (WHS), is a congenital disorder associated with various deformities. WHS is caused by deletion of the WHS critical resion (WHSCR) of chromosome 4p16.

What does the 4th chromosome do?

Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 4 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

What is the life expectancy of a person with Wolf-Hirschhorn syndrome?

The median survival time for de novo deletions was 34+ years while for translocation cases it was 18+ years. CONCLUSIONS—The mortality rate is lower than previously reported. There is a statistically significant relationship between deletion size and overall risk of death in de novo deletion cases.

What is the 4th chromosome?

Chromosome 4 is the fourth largest of the 23 pairs of chromosomes in humans. Chromosome 4 is made up of over 186 million base pairs, the building blocks of DNA which are tightly packed and super coiled to from the DNA helix. Chromosome 4 represents around 6% to 6.5% of the DNA in the human genome.

What is the cause of Wolf-Hirschhorn syndrome?

Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-.

Could Wolf-Hirschhorn syndrome have been prevented?

There is no cure for Wolf-Hirschhorn syndrome, and every patient is unique, so treatment plans are tailored to manage the symptoms. Most plans will include: Physical or occupational therapy. Surgery to repair defects.

What traits are on the 4th chromosome?

Gene mutations on chromosome 4 have been linked to genetic disorders and identified in several types of cancer. Examples of conditions associated with gene mutations on chromosome 4 include neurological and neurodegenerative disorders such as Parkinson’s disease, Huntington’s disease and narcolepsy.

What happens if you are missing chromosome 4?

Patients with chromosome 4q deletion may have the following symptoms: unusual skull shape, short nose with unusual bridge, low-set ears that may not have formed well, cleft in the roof of the mouth, short breastbone, poor or delayed growth, moderate to severe intellectual disability, heart defects, unusual heart rhythm …

Can a person with Wolf-Hirschhorn syndrome have kids?

A loss of these genes results in the intellectual disability , slow growth, and other health problems characteristic of Wolf-Hirschhorn syndrome. If a parent is found to have a balanced translocation involving chromosome 4, they may be at risk of having additional children with Wolf-Hirschhorn syndrome.