Guidelines

What is chromosome 17p?

What is chromosome 17p?

Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved.

What does the 17th chromosome control?

The RARA gene on chromosome 17 provides instructions for making a transcription factor called the retinoic acid receptor alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity (transcription) of particular genes.

What is the short arm of the chromosome called?

Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or “arms.” The short arm of the chromosome is labeled the “p arm.” The long arm of the chromosome is labeled the “q arm.” The location of the centromere on each chromosome gives the chromosome its …

What does an extra 17th chromosome mean?

Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication ) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11. 2. This condition is also known as 17p11.

What are 2 characteristics of Edwards syndrome?

Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of Edwards’ syndrome occur due to problems during the formation of the reproductive cells or during early development.

What is Q arm?

The q arm is the longest arm. It can be large in comparison to the other arm – the p arm – or it can be similar size or any size in between. Naming the arms of the chromosomes is of benefit when noting the locations of a gene within the genome or the location of a variant associated with a condition.

What happens if you have an extra chromosome 17?

The symptoms reported include: developmental delays, body asymmetry, slow growth, and cerebellar hypoplasia. Again, signs and symptoms may vary in these individuals depending on which cells and how many cells contain an extra chromosome 17. What causes trisomy 17 mosaicism?

Why does chromosome 17 have an extra arm?

Sometimes during the formation of the egg or sperm cells or during this complicated copying and replication process, parts of the chromosomes break off or become arranged differently than usual. People with a 17p duplication have one intact chromosome 17, but the other copy of chromosome 17 has an extra piece of the short arm.

What do you need to know about chromosome 17p duplication?

Summary Summary. Listen. Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved.

How many genes does chromosome 17 have in it?

Chromosome 17 is a medium-sized chromosome and contains around 1500 genes. Each chromosome has a short or petit ( p) arm (shown at the top in the diagram opposite) and a long ( q) arm (the bottom part of the chromosome). Chromosome Duplications A sperm cell from the father and an egg cell from the mother each has just one copy of each chromosome.

What does chromosome 17 of the mouse code for?

Chromosome 17 of the Mouse Codes for a Variety of Cell Surface Molecules that May Be Homologous to One Another. Chromosome 17 of the mouse codes for at least five different kinds of cell surface molecules: the T antigens, the K antigens, the I antigens, the D antigens, and the TL antigens (see 2 ).