Chromosome 15

Description: A rare disorder, Cockayne Syndrome, has diagnostic criteria which includes: small head size, insufficient growth in weight and height (dwarfism), sensitivity to sunlight, hearing loss, tooth decay, bone abnormalities, aged appearance, and cold hands and feet. Changes in the brain viewed by a cat scan are also evidence of the disorder. There are four different types of Cockayne Syndrome which are defined by when the onset of the disease appears. CS Type I: CS Type I is the most…

XYY syndrome also known as Jacob’s Syndrome or XYY Karyotype, is rare genetic disease that affects males. XYY syndrome is a mistake that happens when “the two y chromosomes fail to separate when sperm cells are formed” (www.rarechromo.org) This is caused by having an extra “y” chromosome which gives the males forty-seven chromosomes instead of forty-six. XYY is not strictly inherited through a sex. Though it does come from the father, the father doesn’t have to have XYY syndrome in order for…

is 50%, as stated by “rarediseases.info.nih.gov” updated in 2016. Since FFI is passed on throughout generations, if a parent has two children, one of them is almost guaranteed to get FFI, except for in rare cases. The mutation occurs in the 20th chromosome which leads to other problems in th body. FFI doesn’t lead straight to death, there are multiple things leading up to the final stage. In most cases, a person gets FFI from an infected parent. If two parents produce offspring and one has FFI,…

with it. First you need to have an understanding of what Down syndrome is. There are three types of Down syndrome and each one is a little bit different from the other. The first one is the most common type and that’s trisomy 21. This is when chromosome 21 has three copies instead of two. This happens because there is an error is cell division. The second type is…

Niemann-Pick type C (NP-C1) Chromosome 18, one of the 46 chromosomes in each cell, divided into 23 pairs, has about 78 million DNA base pairs and represents approximately 2.5 percent of the total DNA in cells. It is also estimated to contain 200 to 300 genes. (Chromosome 18) A mutation in the chromosome can lead to a mutation of the genes located there. An example of this is 18q deletion syndrome caused by a deletion of genetic material from the long (q) arm of chromosome 18. The symptoms of…

Toulouse-Lautrec with pycnodysostosis. This disease is an autosomal recessive disorder caused by a mutation in a gene on chromosome 1q21 (Hodder et al., 2014). Since Toulouse-Lautrec’s parents were first cousins, there is a great chance he inherited this disease. Pycnodysostosis is a genetic disorder of the bone caused by a mutation in the genetic enzyme cathepsin K and has been mapped by chromosome 1q21 (NHI Paper). The enzyme cathepsin K is very important in the normal function of osteoclasts…

trisomy in pregnancies, the extensive studies on Down syndrome are due to the fact that it the most common trisomy compatible with life. Down syndrome is caused by chromosomal nondisjunction (95%), mosaicism (3%), or translocation (2%). The human chromosome 21 (Hsa21) harbors five microRNA (miRNA) genes.” (The Spectrum of Pulmonary Malformation in Trisomy-21 Patient. A Review with Emphasis on the Molecular-Genetic Basis.) “Affected patients share distinct phenotypes life cognitive disabilities,…

Biological Science Three Parent Child: Research Paper Willie Hall Over the past three years, throughout the biologically developed countries worldwide, debates, criticism, and progressions have boomed in the mitochondrial procedure known as the “Three Parent Child”. In society today, almost one in sixty-five hundred children across the globe are born with a serious mitochondrial disorder due to maternally inherited mitochondrial DNA. Not to mention the greater amount of mildly affected kids…

usually call it by its abbreviation ‘RP’. Even though RP is a rare disease, it is very harmful. It can lead a person to blindness. By studying Retinitis Pigmentosa for 20 years, Eric A. Pierce, a ophthalmologist, found out that what part of the chromosome goes wrong will cause the RP happened. In the experiment, he first looks for the mice that have the RP, and take out their genes to compare to the candidate genes from human. Then, they matched them and used the conventional molecular genetic…

Chromosomes, or strings of genes carrying genetic information, are vital to the existence of living things. A specimen cannot have more or less than how many that particular species needs. In humans, this number is 23. The 23rd pair of chromosomes, referred to as Group X, contain the sex cells that decide the gender of the organism. If a Y chromosome is present, the organism is male, and if not, it is a female. If the chromosomes fail to separate correctly during meiosis (type of cell division…