Chromosomal translocation

chromosomes, 23 from the mother, and 23 from the father. In 1 in about 700 babies born, there is a congenital disorder that creates an extra portion or copy of the 21st chromosome. This disorder is called Down syndrome. It is the most commonly occurring chromosomal condition. People who are born with Down syndrome usually have a flat face ,Protruding tongue, Upward slanting eyes, Unusually shaped or small ears, Poor muscle tone, Broad, short hands with a single…

Background: What is Down Syndrome? Down Syndrome is a chromosomal disorder caused by an error in cell division that results in an extra twenty-first chromosome, that causes birth defects of developmental and intellectual delays. The human body is composed of trillions of cells and within the nucleus of each cell are structures called chromosomes (Parks, 2009). About eight million babies are diagnosed with Down Syndrome in the United States with approximately twenty thousand in Western Europe…

“Down syndrome is found in 1 out of 800 births in the United States of America. 90 percent of people with Down’s syndrome live over the age of 5 years old. The occurrence of Down’s syndrome in young children to young adults was 1 in 971.”(American Academy of Pediatrics, 2009). Around half of children with Down’s syndrome have congenital heart defects and this disorder increases the risk of having leukemia. The risk of a child having Down’s syndrome increases after the age of 35 in mothers.…

Extraosseous Ewing's Sarcoma in the thigh A case report and review of the literature HichamSallahi, Omar Margad, KhalidKoulaliIdrissi Trauma-Orthopaedic Department, Military Hospital of Avicenne Marrakech correspondingauthor: Hicham Sallahi Address :Trauma-Orthopaedic Department, Military Hospital of Avicenne Marrakech Tél : +212661353375 E-mail : sallahi.hicham37@gmail.com Summary The extraosseous Ewing's sarcoma is a rare tumor. The authors reported a case on the thigh level,…

DNA organization within cells is a complex and sophisticated process. This high level of complexity is due to the hundreds of thousands of interactions that can be enabled through organization. It is a known that promoter elements and enhancer elements work in unison to regulate gene expression. Often times enhancers are found hundreds of kilo-bases away from their interacting promoter elements. These enhancers initiate promoter activation via interactions amongst transcription factor binding…

Normally a child inherits 46 chromosomes from their parents, 23 from each parent. An abnormal cell division in early embryo development can cause Down syndrome also called Downs Syndrome named from John Langdon Down, an English Physician, who wrote about it in 1866. A child born with this defect has an extra or abnormal chromosome 21.this changes the way the body and brain develops, and depends on the type of down syndrome and how may cell shave an abnormal chromosome 21. Experts believe that…

Syndrome”). Another way that Down Syndrome can occur is by Translocation. This is less common than Trisomy 21 and accounts for only three to four percent of all cases of Down Syndrome. Translocation happens when a piece of the 21st chromosome breaks off and the the child receives an extra portion of chromosome 21. This is different than Trisomy 21 because it may show that one of the parents of the child with Down Syndrome has chromosomal material that is in an abnormal manner. Counseling…

and structure through genetic and epigenetic changes. Epigenetic changes are mediated by RNA and chromatic remodeling and occur vie regulatory pathways. Genetic changes occur through deletion, mutations, loss of DNA sequence, transposition, and translocation. There are several significant effects of polyploidy in plants, such as: dipliodization, speciation, conservation of species, difference in gene composition, variations in gene expression, neofunctionalization and subfunctionalization, and…

down to the child. “Down syndrome is not the most common 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…

take place in early development when there are some cells who lose an extra chromosome 21 which was present at conception. Symptoms for this form vary between the Trisomy 21 but this depends on the amount of cells which have an extra chromosome. Translocation Down’s syndrome This type of Down’s syndrome is caused when there is a chromosome which breaks off and attaches itself to another chromosome. There are three 21 chromosome but one 21 chromosome attaches to alternative chromosome. Health…