Chromosome+12

=__**Chromosome #:**__ 12= =**Size of Chromosome:**= 132 million base pairs ([|5], May 13, 2012)

=**"Excerpt from Genome":**= " It all revolves around genes, which do indeed contain the plan in digital form. One large cluster of these developmental genes lies close to the middle of chromosome 12. The discovery of these genes and the elucidation of how they work is probably the greates intellectual prize that modern genetics has won since the code itself was cracked. It was a discovery with two stunning and lucky suprises at its heart." (Ridley, 1999, p. 174).

-//**Genome: The Autobiography of a Species in 23 Chapters**//

=**Gene 1:**CACNA1C - Calcium channel, voltage-dependent, L type, alpha 1C subunit= ([|2] May 13, 2012)

The CACNA1C is responsible for providing instructions for making calcium channels. The calcium channel that is produced by the CACNA1C is called CaV1.2.They are especially important for the heart and brain cells to function normally. The channels transport postively charged calcium ions. They are important as they help cells to produce and send electrical signals. Calcium ions are related to varieties of cellular functions. Such as cell-to-cell communication, the tensing of muscle fibers, and the making certain genes. (CACNA1C n.d.)
 * __Scientific Term:__**

The CACNA1C produces calcium channels that are called CaV1.2, which helps our cellular functions to work properly.
 * __Layman's Term:__**

=**Gene 2: BBS10 - Bardet-Biedl syndrome 10**= ([|1] May 13, 2012) The BBS10 gene is responsible for providing instructions for making proteins. The BBS10 protein serves as a chaperonin which helps fold other proteins to be their accurate 3-dimensional shapes. It is important for the cells to be in their correct 3-dimensional shapes because it allows them to perform their functions in the body properly. Also, it helps the formation of cilia. Cilia are microsocpic, hair-like projections. They help in cell movements and many different chemical signaling pathways as well. In addtion they are necessary in order for our senses to work. Such as sight, hearing, and smell. (BBS10 n.d.)
 * __Sceintific Term:__**

__**Layman's Term:**__ The BBS10 helps the cells to be in their normal shapes so that they will function in our body properly.

=**Disorder:**Pallister-Killian mosaic syndrome= ([|7] May 13, 2012) = = This disorder was first described in 1977 by Pallister and then later again in 1981 by Killian and Teschler-Nicola. Pallister-Killian mosaic syndrome can be suspected from a person's physical features. On an ultrasound during pregancy, when there is an increased amount of fluid around the baby, physical abnormalities such as short arms and legs, heart maliformation and a flat profile of the face are shown, it can be suspected that the baby has the Pallister-Killian mosaic syndrome. This disorder is a sporadic disorder. It occurs randomly, it is not heredity. This disorder occurs due to having four copies of the short arm of chromosome 12 instead of two copies of chromosme 12 like a normal person should have.( C, MS, Gale 2005)

The arrows points at the two of chromosome 12 that are stacked on each other.

__**Symptoms:([|7]**__ May 13, 2012__**)**__ There are many symptoms that are caused by Pallister-Killian mosaic syndrome. Also, the symptoms vary depending on the individuals. The major symptoms are: such as a high/large forehead, an abnormally wide space between the eyes, and droopy eyelids. such as having joints that will not move. such as teeth coming out slowly.
 * Unusual facial features
 * Mental retardation
 * Patchy color differences in the skin
 * Physical abnormalities
 * Slow developments

There are other symptoms that are often shown. Such as deafness, difficulty of speaking, poor visions and seizures. ( C, MS, Gale 2005)



Even before birth, you can tell the physical appearances are different from other normal babies by ultrasound during preganancy.
 * __Age of onset__:(**[|7] May 13, 2012)

Many die before or soon after the birth. Some would live to adulthood. However, those that survive are usually unable to live independently as adults. Because of mental retardation, it is hard to take care of themselves.
 * __Severity__:**([|3] May 13, 2012)

It is said that Pallister-Killian mosaic syndrome is very rare.
 * __How common__:**([|3] May 13, 2012)

There are no treatments to cure this disorder. However, depending on the individual, medications can be taken for seizures, surgeries due to birth defects, and physical therapy and occupational therapy are helpful for physical abnormalities.
 * __Treatments__:**([|3] May 13, 2012)

=**Interesting Fact:**= ([|4] May 13, 2012)
 * Out of all the chromosomes, Chromosome 12 is to be the most slowly evolving chromosome.

=References=


 * 1) BBS10 - Bardet-Biedl syndrome 10 - Genetics Home Reference. (n.d.). //Genetics Home Reference - Your guide to understanding genetic conditions//. Retrieved May 13, 2012, from []
 * 2) CACNA1C - calcium channel, voltage-dependent, L type, alpha 1C subunit - Genetics Home Reference. (n.d.). //Genetics Home Reference - Your guide to understanding genetic conditions//. Retrieved May 13, 2012, from []
 * C, C., E, C., V, B., C, G., A, L., M, B., et al. (n.d.). Pallister Killian syndrome / Diseases / CheckOrphan. //CheckOrphan / CheckOrphan//. Retrieved May 13, 2012, from []
 * 1) Chromosome 12 annotated sequence complete | The Human Genome . (n.d.). //In the genome | The Human Genome// . Retrieved May 13, 2012, from []
 * 2) DNARSS.com : Chromosome 12. (n.d.). //DNARSS.com : Genetics News//. Retrieved May 13, 2012, from []
 * 3) Jamuar, S., Lai, A., Unger, S., & Nishimura, G. (n.d.). Clinical and radiological findings in Pallister-Killian syndrome. //SciVerse//. Retrieved May 13, 2012, from [|www.sciencedirect.com/science/article/pii/]
 * 4) Pallister-Killian Syndrome | Definition and Patient Education | Healthline. (n.d.). //Medical Information for Healthy Living | Healthline//. Retrieved May 13, 2012, from []
 * 5) Ridley, M. (1999). //Genome: the autobiography of a species in 23 chapters//. New York: HarperCollins.
 * 6) Syndrome, Pallister-Killian. Causes, symptoms, treatment Syndrome, Pallister-Killian. (n.d.). //Prescription Drug Information, Side Effects, Interactions//. Retrieved May 13, 2012, from []