X chromosome

COLUMN 2: Behind Column 1 What causes this disorder? A chromosomal mutation called translocation. Translocation is when the chromosome breaks and a portion of that chromosome reattaches to another chromosome. This chromosome that is affected by this is the 8 and 14 chromosome pair. What are the symptoms? Fever Night Sweats Swollen lymph nodes Weight loss Fever Tiredness Distortion of facial bones COLUMN 6: Back of Brochure What kind of assistance do you need? Watchful waiting…

For a century, scientists studied chromosomes by looking at them under a microscope. In order for chromosomes to be seen this way, they need to be stained. Once stained, the chromosomes look like strings with light and dark bands, and their picture can be taken. A picture, or chromosome map, of all 46 chromosomes is called a karyotype. The karyotype can help identify abnormalities in the structure or the number of chromosomes. To help identify chromosomes, the pairs have been numbered from 1 to…

Klinefelter Syndrome Klinefelter Syndrome is a disorder in which there is an extra X chromosome to the standard male, 47 chromosomes rather than 46 chromosomes, genetically common to males. David Drexler is a 56 year old man with Klinefelter Syndrome or XXY for short; he was diagnosed with Klinefelter Syndrome at age 19. Mr. Drexler describes that in following with the Syndrome it'll delay puberty too. Drexler childhood was terrible. At the age 18, puberty didn't seem to happen for Drexler,…

Turner Syndrome is caused by a partial or complete lack of a single X chromosome. The chromosome could be missing in either all cells, partially there in all cells, or partially there in some cells. It should generally be easy to diagnose, often before birth or a few years later. Some signs of Turner Syndrome may be frequent ear infections and short stature, which should cause a doctor to want to do tests to check. However, many times these symptoms are overlooked even though the syndrome is…

Fragile X. Although it may sound similar to a portion of Area 51, Fragile X, also known as FXS or Martin Bell Syndrome, is a serious condition which affects over 200,000 americans each year. Being a quite common gene disease, FXS is known to affect men more than the opposite female gender. In addition to education and physicality, adolescents with this disease also battle the effects of their condition as well as the challenges they face in everyday life. Over the years, Fragile X has…

Diagnosis can also come from a clear, recent patient history and of course, the physical effects from the disease. Additional test are also a good idea for the correct diagnosis such as x-rays to reveal abnormalities within the bones and joints, eye exams to check for the jelly-like substance in the eyes (eye exams can also reveal cataracts), and hearing test to measure the different frequencies of sound. Genetic testing is also available…

small number of boys have a different MECP2 mutation and can have some developmental delay. Rett Syndrome has an unknown etiology, perhaps because of the lack of bulk investigations available. According to Pellock, there is a mutation on the X chromosome which affects the methyl-CpG-binding protein 2 (MECP2). There are also other mutations that can cause atypical or congenial Rett Syndrome such as mutations in the CDKL5 and FOXG1 genes. These cases may be caused by partial gene deletions,…

the loops contained tiny parts where a protein is called CTCF.Researcher found large parts of gene looped together. There were a lot of experiments that took place in my article talking about looping and folding DNA.They also talk about Y chromosome and X chromosome with the 3-D experiment. Folding happen in cancer cells they can use 3-D maps to help find a cure. This is just some of the experiments they did in the article I…

Does someone that you know have Triple x Syndrome or you want to know about it, well this research paper can tell you all about it. Triple x Syndrome can only affect women, and is created when an additional x chromosome is added to the other two x chromosomes. Triple x Syndrome was discovered by Patricia Jacobs in 1959 from one of her patients who was undergoing premature menopause. It can only affect women and they can be diagnosed with the disease at any age. The only noticeable effect it can…

disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Osteopetrosis can have several different patterns of inheritance. Most commonly, the disorder has an autosomal…