X chromosome

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…

Purpose: Meiosis is the process by which cell division results in the production of new cells containing half the number of chromosomes of the original cell. These cells are recognized as gametes and can recombine in order to create a zygote during fertilization. The purpose of this assessment is to demonstrate a clear understanding of the reproductive process and fertilization, through the presentation of a flow chart of this process in mythical dragons. Method: Step 1) Creative title Step 2)…

Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21. It is seen in all ages, races and socioeconomic levels, but a higher incidence is found with a maternal age older than 35 years. This is associated with the fact that 90% of cases with an extra chromosome 21 originates from the mother. Trisomy 21 is associated with intellectual…

Fibrodysplasia Ossificans Progressiva The human body is a remarkable structure! Physicians and scientists around the world have been fascinated by its intricate systems for centuries. Fibrodysplasia ossificans progressiva, also know as FOP, has been of peculiar interest to those who have happened to stumble upon it. FOP is a condition in which soft tissue permanently transforms into bone over time. This abnormal growth is not limited to a particular area of the body but forms in muscles, tendons…

This is known as a genetic disease that usually occurs in 1 out of 10000. This disease is known to affect the growing ends of bones. This disease will prevent ossification which is a process in which bones elongate because of the deposition of cartilage. This disease is also known by the name Fairbank’s disease. Introduction During the whole course of the report we will see all the major causes of Fairbanks disease. We will explore how the disease actually works in the body and look into all…